brachydactylous dwarfism, Mseleni type

description: Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.


cleft palate, pig

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Cleft palate that occurs in pig.


name: multiple mitochondrial dysfunctions syndrome 7


name: cortical blindness-intellectual disability-polydactyly syndrome

description: This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly.


ciliary body epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the ciliary body.


name: metaphyseal chondrodysplasia, Kaitila type

description: Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.


carcinosarcoma of the corpus uteri

description: An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.


urolithiasis, sheep

description: Urolithiasis that occurs in sheep.


chronic maxillary sinusitis

description: Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


name: intellectual disability, autosomal dominant 13

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.


retinitis pigmentosa-deafness syndrome

description: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.


name: IFAP syndrome 1, with or without BRESHECK syndrome

description: An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.


name: AA amyloidosis, white-tufted-ear marmoset

description: AA amyloidosis that occurs in white-tufted-ear marmoset.


cervical benign neoplasm

description: A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.


disorder of lacrimal gland

description: A disease that involves the lacrimal gland.


Wilms tumor 6

description: Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.


ulnar nerve lesion

description: A peripheral nerve lesion that involves the ulnar nerve.


macular corneal dystrophy, dog

description: Macular corneal dystrophy that occurs in dog.


ectopic aldosterone-producing tumor

description: Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.


T2-high asthma

description: A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.


rhabdomyosarcoma of the cervix uteri

description: A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.


familial monosomy 7 syndrome

description: A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.


polydactyly, cattle

description: Polydactyly that occurs in cattle.


distal chromosome 18q deletion syndrome

description: Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.


name: familial isolated hypoparathyroidism due to impaired PTH secretion


multiple epiphyseal dysplasia type 5

description: Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.


audiogenic seizures

description: Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).


name: generalized resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.


name: acute myeloid leukemia, PTPN11 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)


name: autosomal dominant nonsyndromic hearing loss 5

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.


name: lymphoma, Hodgkin, X-linked pseudoautosomal


myopathy, centronuclear, 5

description: Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.


name: hereditary sensory and autonomic neuropathy with spastic paraplegia

description: This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.


polyp of maxillary sinus

description: A polyp that involves the maxillary sinus.


name: contractures - webbed neck - micrognathia - hypoplastic nipples syndrome


Fusobacterium infectious disease

description: Infections with bacteria of the genus fusobacterium.


3M syndrome 3

description: Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.


spinocerebellar ataxia type 37

description: Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.


name: adducted thumbs-arthrogryposis syndrome, Christian type

description: A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.


intellectual disability, X-linked 97

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.


name: mitochondrial complex 1 deficiency, nuclear type 15


amelocerebrohypohidrotic syndrome

description: Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.


intellectual disability, X-linked 9

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.


name: neurodevelopmental disorder with involuntary movements


candidal paronychia

description: A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.


name: spondyloepimetaphyseal dysplasia, Maroteaux type

description: A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.


congenital factor X deficiency

description: Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.


name: serous or mucinous cystadenoma of childhood

description: Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.


name: chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


Proteus infectious disease

description: Infections with bacteria of the genus proteus.


name: combined immunodeficiency due to ORAI1 deficiency

description: A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.


familial goiter, water buffalo

description: Familial goiter that occurs in water buffalo.


d-2-hydroxyglutaric aciduria 2

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


Boudhina Yedes Khiari syndrome

description: Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

description: Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.


chaotic conus spinal cord lipoma

description: A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.


klumpke's paralysis

description: Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.


name: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

description: An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.


primary ciliary dyskinesia 18

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.


hypertrophic cardiomyopathy, dog

description: Hypertrophic cardiomyopathy that occurs in dog.


inherited acute myeloid leukemia

description: An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.


name: combined oxidative phosphorylation deficiency 59


proliferative fasciitis

description: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.


name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


name: hemolytic disease of the newborn with Kell alloimmunization


inborn vitamin B12 deficiency

description: Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

description: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.


urolithiasis, Rhesus monkey

description: Urolithiasis that occurs in Rhesus monkey.


PDE6A-related retinopathy

description: Any retinopathy caused by variants in the PDE6A gene.


autosomal dominant distal myopathy

description: Autosomal dominant form of distal myopathy.


helminthiasis, animal

description: Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.


PHGDH deficiency

description: 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form


Erysipelothrix infectious disease

description: Infections with bacteria of the genus erysipelothrix.


nail anomaly

description: A epidermal appendage anomaly that involves the nail.


pyruvate carboxylase deficiency disease

description: Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.


non-syndromic intellectual disability

description: An intellectual disability that is not part of a larger syndrome.


complement component C1s deficiency

description: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.


congenital hypothyroidism, domestic cat

description: Congenital hypothyroidism that occurs in domestic cat.


pure hair and nail ectodermal dysplasia

description: Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.


name: chronic rapidly progressive glomerulonephritis

description: Chronic form of rapidly progressive glomerulonephritis.


schizophrenia 7

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


polydactyly, domestic cat

description: Polydactyly that occurs in domestic cat.


canine Langerhans cell histiocytosis

description: Langerhans cell histiocytosis occurring in a dog.


name: acute myeloid leukemia with CEBPA somatic mutations

description: Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).


inhalational botulism

description: Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).


name: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


male reproductive system disorder

description: A disease involving the male reproductive system.


immunodeficiency 96

description: An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.


name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

description: Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.


megacolon, pig

description: Megacolon that occurs in pig.


polyploidy

description: Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.


panner disease

description: Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.


hereditary recurrent myoglobinuria

description: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.


entropion, domestic cat

description: Entropion that occurs in domestic cat.


hyperparathyroidism, non-human animal

description: Hyperparathyroidism that occurs in non-human animals.


name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


name: X-linked intellectual disability-psychosis-macroorchidism syndrome


lichen planus pemphigoides

description: Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.


HAND2 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.


Stimmler syndrome

description: Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.


name: congenital anomaly of the great arteries


name: syndromic X-linked intellectual disability Claes-Jensen type


name: hypogonadotropic hypogonadism 20 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.


name: factor 5 and Factor VIII, combined deficiency of, 2

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.


large artery stroke

description: Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.


retinitis pigmentosa 26

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.


name: erythrocyte galactose epimerase deficiency


bullous pemphigoid, dog

description: Bullous pemphigoid that occurs in dog.


name: alpha-N-acetylgalactosaminidase deficiency type 1

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.


name: corpus callosum agenesis of blepharophimosis robin type


name: hypogonadotropic hypogonadism 4 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.


name: developmental and epileptic encephalopathy 104


Perrault syndrome 3

description: Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.


name: Charcot-Marie-Tooth disease dominant intermediate C

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.


fibroblastic liposarcoma

description: A liposarcoma characterized by the presence of a fibroblastic component.


pharynx neoplasm

description: A neoplasm (disease) that involves the pharynx.


hereditary intrinsic factor deficiency

description: Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.


name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


name: oocyte/zygote/embryo maturation arrest 21


syndactyly, cattle

description: Syndactyly that occurs in cattle.


palpebral epidermal tumor

description: A neoplasm (disease) that involves the skin of eyelid.


description: A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.


tick infestation

description: Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.


name: hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


name: progressive non-infectious anterior vertebral fusion

description: Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.


name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

description: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.


immunoglobulin heavy-and-light chain

description: An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.


name: Klippel-Feil syndrome 3, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.


thrombophlebitis migrans

description: A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.


name: acute subendocardial myocardial infarction

description: Acute form of subendocardial myocardial infarction.


name: malignant germ cell tumor of corpus uteri

description: A malignant germ cell tumor that involves the body of uterus.


name: severe early-onset axonal neuropathy due to MFN2 deficiency

description: A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.


name: normophosphatemic familial tumoral calcinosis


cor biloculare

description: A congenital anatomic anomaly in which the heart has only two chambers.


thoracolaryngopelvic dysplasia

description: A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.


name: retinal degeneration, crab-eating macaque

description: Retinal degeneration that occurs in crab-eating macaque.


translocation Down syndrome

description: Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.


name: acute myeloid leukemia, t(16;21)(q24;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)


name: carnitine palmitoyl transferase II deficiency, severe infantile form

description: The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.


patent ductus venosus, non-human animal

description: Patent ductus venosus that occurs in non-human animals.


description: A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.


name: acute disseminated encephalomyelitis with anti-MOG antibodies


name: neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


name: osteopetrosis with gingival hamartomas, non-human animal

description: Osteopetrosis with gingival hamartomas that occurs in non-human animals.


name: short-rib thoracic dysplasia 18 with polydactyly


name: median cleft of the upper lip and maxilla

description: Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.


name: myoglobinuria, acute recurrent, autosomal recessive


name: coronal synostosis, syndactyly and jejunal atresia


chronic gonorrhea of cervix

description: Chronic form of gonococcal cervicitis.


name: combined oxidative phosphorylation deficiency 36


name: chromosome 11p13 deletion syndrome, distal


spontaneous ocular nystagmus

description: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)


name: craniometaphyseal dysplasia, autosomal dominant


anemia due to enzyme disorder

description: Any form of anemia that results from the absence of, or the defective action of, any enzyme.


description: Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).


name: autosomal recessive limb-girdle muscular dystrophy type 2J

description: Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.


spinocerebellar ataxia type 20

description: Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.


partial hydatidiform mole

description: Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.


acrofrontofacionasal dysostosis

description: A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.


hidrocystoma

description: A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.


description: X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.


Marfan syndrome, pig

description: Marfan syndrome that occurs in pig.


cataract 35

description: A cataract that has material basis in variation in the region 19q13.


spermatogenic failure 8

description: Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.


nasolacrimal duct disorder

description: A disease or disorder that involves the nasolacrimal duct.


scabies

description: A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.


cataract-deafness-hypogonadism syndrome

description: Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.


name: autosomal dominant slowed nerve conduction velocity

description: Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.


polycystic kidney disease, sheep

description: Polycystic kidney disease that occurs in sheep.


name: developmental and epileptic encephalopathy 114


name: intellectual disability syndrome due to a DYRK1A point mutation


name: spondyloepiphyseal dysplasia, Stanescu type


name: facioscapulohumeral muscular dystrophy 4, digenic


name: heterotaxy, visceral, 9, autosomal, with male infertility


autosomal dominant sensory ataxia 1

description: Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.


2q31.1 microdeletion syndrome

description: 2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.


autosomal dominant Robinow syndrome 2

description: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.


distal trisomy 6q

description: Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.


factor X deficiency, domestic cat

description: Factor X deficiency that occurs in domestic cat.


orofaciodigital syndrome

description: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.


episodic pain syndrome, familial, 2

description: Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.


non-Langerhans cell histiocytosis

description: Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).


Warburg micro syndrome 1

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.


acrocraniofacial dysostosis

description: Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.


staphyloenterotoxemia

description: Food poisoning that is caused by Staphylococcal infection.


retinal macular dystrophy type 2

description: Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.


name: congenital heart defects, multiple types, 1, X-linked


congenital agammaglobulinemia

description: An instance of agammaglobulinemia that is present from birth.


vesicoureteral reflux 8

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.


malignancy in giant cell tumor of bone

description: A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).


name: azygos continuation of the inferior vena cava


name: vitamin D hydroxylation-deficient rickets, type 1B

description: An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.


name: neurodevelopmental disorder with microcephaly, ataxia, and seizures


torsion dystonia 7

description: A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.


name: alar cartilages hypoplasia-coloboma-telecanthus syndrome

description: Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.


gingival neoplasm

description: A benign or malignant neoplasm that affects the upper or lower gingiva.


name: inherited glutathione metabolism disease

description: An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.


hydrolethalus syndrome 1

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.


name: ectodermal dysplasia arthrogryposis diabetes mellitus


canine hepatocellular carcinoma

description: A malignant tumor arising from hepatocytes that occurs in dogs.


description: Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.


focal segmental glomerulosclerosis 8

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.


diabetes insipidus, pig

description: Diabetes insipidus that occurs in pig.


velo-facial-skeletal syndrome

description: Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.


name: short rib-polydactyly syndrome, Majewski type


sleep-wake disorder

description: Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.


nerve plexus neoplasm

description: A neoplasm (disease) that involves the nerve plexus.


intellectual disability, X-linked 61

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.


name: cerebellar atrophy, visual impairment, and psychomotor retardation;


name: autosomal recessive nonsyndromic hearing loss 67

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.


distal 7q11.23 microdeletion syndrome

description: Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).


12q15q21.1 microdeletion syndrome

description: 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.


gasserian ganglion meningioma

description: A meningioma that affects the trigeminal ganglion.


familial adenomatous polyposis, dog

description: Familial adenomatous polyposis that occurs in dog.


name: diabetes mellitus type 2 associated cataract

description: Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism


atrial septal defect, dog

description: Atrial septal defect that occurs in dog.


glaucoma-sleep apnea syndrome

description: Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).


rheumatic disease of mitral valve

description: A rheumatologic disorder that involves the mitral valve.


name: developmental and epileptic encephalopathy 99


Perrault syndrome 1

description: Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.


complement receptor deficiency

description: A disorder with basis in disruption of a complement receptor.


name: hyperparathyroidism, primary, caused by water clear cell hyperplasia


name: autoimmune thrombocytopenia, domestic cat

description: Autoimmune thrombocytopenia that occurs in domestic cat.


factor XI deficiency, cattle

description: Factor XI deficiency that occurs in cattle.


Antley-Bixler syndrome

description: Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


borderline leprosy

description: A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.


name: testicular sex cord-stromal benign neoplasm

description: A sex cord-stromal benign neoplasm that arises from the testis.


description: Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.


pentasomy

description: A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.


hereditary spastic paraplegia 44

description: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.


anodontia, domestic cat

description: Anodontia that occurs in domestic cat.


name: combined oxidative phosphorylation deficiency 43


gangliosidosis, non-human animal

description: Gangliosidosis that occurs in non-human animals.


familial adenomatous polyposis, pig

description: Familial adenomatous polyposis that occurs in pig.


name: inborn disorder of biogenic amine metabolism and transport


name: multiple mitochondrial dysfunctions syndrome 2

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.


autosomal dominant sideroblastic anemia

description: Autosomal dominant form of sideroblastic anemia.


norovirus infectious disease

description: Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.


name: Chediak-Higashi syndrome, non-human animal

description: Chediak-Higashi syndrome that occurs in non-human animals.


sialolithiasis

description: A concretion in the salivary gland.


name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


name: Charcot-Marie-Tooth disease axonal type 2V

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.


vein disorder

description: A disease involving the vein.


pelvis-shoulder dysplasia

description: Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.


Lutembacher syndrome

description: A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.


benign lipomatous neoplasm

description: A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.


c8 deficiency, non-human animal

description: C8 deficiency that occurs in non-human animals.


Emery-Dreifuss-like muscular dystrophy

description: A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.


name: thrombophilia, X-linked, due to factor 8 defect


Sheldon-hall syndrome

description: Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.


dorsal spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.


entropion, non-human animal

description: Entropion that occurs in non-human animals.


name: PRRT2-associated paroxysmal movement disorder

description: A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.


name: nephrolithiasis, X-linked recessive, with renal failure


name: pigmented nodular adrenocortical disease, primary, 1

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.


name: inborn disorder of cobalamin metabolism and transport


spinal stenosis, non-human animal

description: Spinal stenosis that occurs in non-human animals.


name: acute myeloid leukemia with NPM1 somatic mutations

description: Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.


name: neurodevelopmental disorder with hyperkinetic movements and dyskinesia


Bartter disease type 4A

description: Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.


bladder neck cancer

description: A malignant neoplasm involving the neck of urinary bladder.


name: atypical hemolytic-uremic syndrome with H factor anomaly


retinitis pigmentosa 77

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.


name: mitochondrial trifunctional protein deficiency 1


phenylketonuria, non-human animal

description: Phenylketonuria that occurs in non-human animals.


penile urethral cancer

description: A urethra cancer that involves the penis.


name: indolent primary cutaneous B-cell lymphoma


name: autosomal dominant auditory neuropathy 1

description: Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.


candidiasis, familial, 4

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.


neuronal ceroid lipofuscinosis 10

description: A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: congenital fiber-type disproportion myopathy

description: A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.


renal hypoplasia, chicken

description: Renal hypoplasia that occurs in chicken.


bullous diffuse cutaneous mastocytosis

description: Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.


color agnosia

description: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.


rodent disease

description: Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).


name: non-specific autoimmune cerebellar ataxia with characteristic antibodies


name: tetrahydrobiopterin metabolic process disease

description: A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.


malaria, avian

description: Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.


paucibacillary leprosy

description: A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.


PSAP-related sphingolipidosis

description: A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.


familial mitral valve prolapse

description: An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.


renal agenesis, non-human animal

description: Renal agenesis that occurs in non-human animals.


urinary bladder anterior wall cancer

description: Evidence of a malignant neoplasm of the anterior wall of bladder.


fixed subaortic stenosis

description: Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.


Joubert syndrome 6

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.


diabetes mellitus, pig

description: Diabetes mellitus that occurs in pig.


feline synovial cell sarcoma

description: Synovial cell sarcoma occurring in a cat.


Cooks syndrome

description: Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.


Al Kaissi syndrome

description: Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).


choanal atresia, domestic cat

description: Choanal atresia that occurs in domestic cat.


epithelial predominant Wilms' tumor

description: Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.


Hashimoto-Pritzker syndrome

description: Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).


Adams-Oliver syndrome 2

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.


benign eyelid neoplasm

description: A non-metastasizing neoplasm that arises from the upper or lower eyelid.


polydactyly, domestic guinea pig

description: Polydactyly that occurs in domestic guinea pig.


non-distal trisomy 13q

description: Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.


coloboma, chicken

description: Coloboma that occurs in chicken.


name: marfanoid habitus-autosomal recessive intellectual disability syndrome

description: Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.


aquagenic pruritus

description: Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.


X-linked cerebellar ataxia

description: X-linked form of cerebellar ataxia.


syndactyly, domestic cat

description: Syndactyly that occurs in domestic cat.


name: preterm premature rupture of the membranes

description: A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.


name: developmental and epileptic encephalopathy, 49

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.


name: autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome


name: hypogonadotropic hypogonadism 26 with or without anosmia


name: myopathy, congenital proximal, with minicore lesions


name: circadian rhythm sleep disorder, jet lag type

description: A circadian sleep disorder that results from traveling across time zones.


name: lethal congenital contracture syndrome 4

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.


name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

description: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.


name: intellectual disability, autosomal dominant 11

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.


gastrointestinal tularemia

description: A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.


name: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


name: partial deletion of the long arm of chromosome 14

description: Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.


name: Ehlers-Danlos syndrome, spondylodysplastic type

description: A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.


congenital Epstein-Barr virus infection

description: Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.


name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


diabetes insipidus, dog

description: Diabetes insipidus that occurs in dog.


acquired night blindness

description: An instance of night blindness that is acquired during the lifetime of the individual.


name: autosomal recessive nonsyndromic hearing loss 14

description: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.


name: microcephaly 7, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.


name: short-limb skeletal dysplasia with severe combined immunodeficiency

description: Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.


anterior horn disorder

description: Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.


name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of an KMT2A related fusion protein.


name: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

description: Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.


pupil disorder

description: A disease involving the pupil.


colorectal cancer, susceptibility to, 1

description: Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.


name: neurodevelopmental disorder with or without early-onset generalized epilepsy


name: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

description: A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


name: mitochondrial complex IV deficiency, nuclear type 23


factor XI deficiency, domestic cat

description: Factor XI deficiency that occurs in domestic cat.


description: A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.


name: intellectual developmental disorder, autosomal recessive 72


name: dihydropyrimidinase deficiency, non-human animal

description: Dihydropyrimidinase deficiency that occurs in non-human animals.


Krabbe disease, domestic cat

description: Krabbe disease that occurs in domestic cat.


name: autosomal recessive congenital ichthyosis 3

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.


trypanosomiasis, non-human animal

description: Trypanosomiasis that occurs in non-human animals.


brachydactyly, chicken

description: Brachydactyly that occurs in chicken.


Perrault syndrome 2

description: Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.


name: neuromyelitis optica spectrum disorder with anti-MOG antibodies


name: multiple paragangliomas associated with polycythemia


Charcot-Marie-Tooth disease type 2E

description: Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.


cor triatriatum sinister

description: Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.


name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


mal de Meleda

description: Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.


Harrod syndrome

description: Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.


MEGF8-related Carpenter syndrome

description: Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.


name: spondyloepiphyseal dysplasia, Reardon type

description: Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.


intracranial arteriosclerosis

description: Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.


paroxysmal dyskinesia, dog

description: Paroxysmal dyskinesia that occurs in dog.


prostate leiomyoma

description: A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: familial congenital palsy of trochlear nerve

description: An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.


name: pituitary hormone deficiency, combined, 1

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.


name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

description: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.


name: neurodevelopmental disorder with hypotonia and dysmorphic facies


name: palmoplantar keratoderma-esophageal carcinoma syndrome

description: An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.


name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


patent urachus, white rhinoceros

description: Patent urachus that occurs in white rhinoceros.


distal trisomy 13q

description: Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.


name: otospondylomegaepiphyseal dysplasia, autosomal dominant

description: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.


name: peroxisome biogenesis disorder due to PEX26 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


leukemia, acute, X-linked

description: X-linked form of acute leukemia


name: Krabbe disease due to saposin A deficiency


name: adult-onset distal myopathy due to VCP mutation

description: Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.


retinitis pigmentosa 12

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.


immunodeficiency 19

description: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.


North Carolina macular dystrophy

description: North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.


9q21.13 microdeletion syndrome

description: A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.


name: intellectual disability, X-linked syndromic, Turner type

description: An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.


pigmented spindle cell nevus

description: A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.


pyruvate metabolism disorder

description: An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.


congenital pulmonary lymphangiectasia

description: Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.


Say-Barber-Miller syndrome

description: Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.


name: congenital disorder of glycosylation, type Iw, autosomal dominant


name: progressive scapulohumeroperoneal distal myopathy


screw worm infectious disease

description: Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.


name: radioulnar synostosis-developmental delay-hypotonia syndrome

description: Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).


autosomal anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an autosome.


IVIC syndrome

description: IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.


name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome


respiratory system benign neoplasm

description: A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

description: A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.


methylcobalamin deficiency type cblE

description: An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


name: neurodevelopmental disorder with seizures and gingival overgrowth


dourine

description: A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia.


name: developmental and epileptic encephalopathy, 71


choroidal dystrophy, central areolar, 1

description: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


superficial Fibromatosis

description: A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.


trochlear nerve disorder

description: A disease involving the trochlear nerve.


neurotic depression

description: A term used for any state of depression that is not psychotic.


name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


name: epilepsy, early-onset, vitamin B6-dependent


Morvan syndrome

description: Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.


atrial conduction disease

description: Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.


osteosclerotic plasma cell myeloma

description: A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


name: Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

description: An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.


description: Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.


congenital myasthenic syndrome 8

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.


name: ciliary discoordination due to random ciliary orientation


description: A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003


nocturnal asthma

description: A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.


name: common variable immunodeficiency, non-human animal

description: Common variable immunodeficiency that occurs in non-human animals.


childhood intracortical osteosarcoma

description: A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


name: mitochondrial complex 2 deficiency, nuclear type 2


name: acrodermatitis enteropathica, domestic cat

description: Acrodermatitis enteropathica that occurs in domestic cat.


name: hereditary sensory and autonomic neuropathy type 5

description: Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.


Ulbright-Hodes syndrome

description: Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.


schizophrenia 12

description: A schizophrenia that has material basis in a mutation on chromosome 1p36.2.


description: BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.


description: Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.


progressive familial heart block

description: A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.


malignant ovarian cyst

description: A cystic cancerous tumor arising from the ovary.


periventricular nodular heterotopia 7

description: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.


Charlevoix-Saguenay spastic ataxia

description: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.


Desbuquois dysplasia 1

description: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.


name: mitochondrial complex 1 deficiency, nuclear type 37


name: mitochondrial complex IV deficiency, nuclear type 22


urolithiasis, Siberian chipmunk

description: Urolithiasis that occurs in Siberian chipmunk.


omodysplasia

description: Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.


acute myeloid leukemia, der12p

description: Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)


foix chavany Marie syndrome

description: Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.


TPM4-related platelet disorder

description: A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.


superficial mycosis

description: A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.


cardiovirus infectious disease

description: Infections caused by viruses of the genus cardiovirus, family picornaviridae.


name: ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

description: Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.


narcolepsy, non-human animal

description: Narcolepsy that occurs in non-human animals.


name: maternally-inherited progressive external ophthalmoplegia


pontocerebellar hypoplasia type 4

description: Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.


tactile agnosia

description: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.


name: neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


tinea favosa

description: A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.


name: combined oxidative phosphorylation defect type 13

description: Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.


name: acquired angioedema with C1Inh deficiency


amusia

description: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.


name: epilepsy, familial focal, with variable foci 3

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


premature ovarian failure 8

description: Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.


paraneoplastic hematological syndrome

description: Paraneoplastic syndrome that involves the hematopoietic system.


protoporphyria, non-human animal

description: Protoporphyria that occurs in non-human animals.


Leber congenital amaurosis 4

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.


name: intellectual disability, autosomal recessive 47

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.


syphilitic aortitis

description: Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.


name: dyskeratosis congenita, autosomal dominant 2

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.


distal trisomy 20q

description: Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.


butterfly-shaped pigment dystrophy

description: A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.


Senior-Boichis syndrome

description: Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.


name: neurodevelopmental disorder with neuromuscular and skeletal abnormalities


name: immunodeficiency 94 with autoinflammation and dysmorphic facies


NYX-related retinopathy

description: An X-linked retinopathy caused by variants in the NYX gene.


giant axonal neuropathy, dog

description: Giant axonal neuropathy that occurs in dog.


name: hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


name: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


pyrimidine metabolism disease

description: A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.


name: disorder of lysosomal-related organelles


name: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

description: An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.


aortic arch interruption

description: Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.


myostatin-related muscle hypertrophy

description: Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.


name: autosomal semi-dominant severe lipodystrophic laminopathy


Beemer-Langer syndrome

description: Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.


familial goiter, non-human animal

description: Familial goiter that occurs in non-human animals.


vascular bone neoplasm

description: A benign, intermediate, or malignant vascular neoplasm that arises from the bone.


name: congenital disorder of glycosylation, type ICC


name: hypotonia, ataxia, and delayed development syndrome


Senior-Loken syndrome 7

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.


poultry disease

description: Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.