Desbuquois dysplasia

description: Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.


vulvar benign neoplasm

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

description: A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

description: An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.


trigeminal trophic syndrome

description: A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome.


name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


name: autosomal dominant epilepsy with auditory features

description: A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.


ovarian dysgenesis 3

description: Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.


name: hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial


ischemic fasciitis

description: A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.


name: intellectual developmental disorder, autosomal dominant 67


epilepsy, golden hamster

description: Epilepsy that occurs in golden hamster.


dicrocoeliasis

description: Infection with flukes of the genus Dicrocoelium.


MEDNIK syndrome

description: MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).


name: ossification of the posterior longitudinal ligament of the spine

description: A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.


retroperitoneal germ cell neoplasm

description: A germ cell tumor that involves the retroperitoneal space.


disorder of extraembryonic membrane

description: A disease or disorder that involves the extraembryonic membrane.


name: spondylocostal dysostosis 6, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.


name: recurrent Neisseria infections due to factor D deficiency


name: acute intermittent porphyria, domestic cat

description: Acute intermittent porphyria that occurs in domestic cat.


name: familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

description: An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone.


periocular meningioma

description: A meningioma that affects the periocular region.


atrial fibrillation, dog

description: Atrial fibrillation that occurs in dog.


white fibrous papulosis of the neck

description: White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.


name: lethal congenital contracture syndrome 11

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


name: combined immunodeficiency due to CRAC channel dysfunction

description: A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.


distal trisomy 2p

description: Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.


myxoid chondrosarcoma

description: A chondrosarcoma characterized by the presence of myxoid changes.


name: developmental and epileptic encephalopathy 103


name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome


name: congenital stationary night blindness 1E

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.


name: disorder of defective peroxisomal and mitochondrial fission

description: A disease that has its basis in the disruption of peroxisome and mitochondrial fission.


name: bile acid CoA ligase deficiency and defective amidation

description: Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.


name: primary non-essential cutis verticis gyrata


Sydenham chorea

description: A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.


von Voss-Cherstvoy syndrome

description: Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.


T-cell and NK-cell neoplasm

description: A group of neoplasms composed of T-lymphocytes and/or NK-cells.


Wolff-Parkinson-White syndrome, cattle

description: Wolff-Parkinson-White syndrome that occurs in cattle.


name: extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.


BNAR syndrome

description: BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.


name: epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


cataract 3 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.


name: autosomal recessive nonsyndromic hearing loss 53

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.


description: The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.


pertussis

description: A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.


palindromic rheumatism

description: A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.


anterolateral myocardial infarction

description: Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.


description: Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.


name: cystic malformation of the posterior fossa


name: channelopathy-associated congenital insensitivity to pain, autosomal recessive

description: A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)


description: Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.


name: mitochondrial complex 1 deficiency, nuclear type 35


name: 46,XX disorder of sex development-skeletal anomalies syndrome


MAK-related retinopathy

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


name: acute megakaryoblastic leukemia without down syndrome


Moyamoya disease 5

description: Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.


name: multiple mitochondrial dysfunctions syndrome 1

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.


conjunctival pigmentation

description: Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.


name: mitochondrial complex 1 deficiency, nuclear type 17


name: colonic varices without portal hypertension


Good syndrome

description: Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.


coronaviral enteritis of turkeys

description: An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus.


von Willebrand disease 1

description: Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).


focal facial dermal dysplasia type I

description: Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.


name: intellectual disability, autosomal recessive 42

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.


name: parasitic Ichthyosporea infectious disease

description: A disease caused by infection with Ichthyosporea.


glucocorticoid resistance

description: An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.


name: melanoma, cutaneous malignant, susceptibility to, 1


ocular melanoma

description: A melanoma that arises from the structures of the eye or ocular adnexa.


name: paternal 14q32.2 hypomethylation syndrome


name: atypical hemolytic-uremic syndrome with I factor anomaly


congenital lethal erythroderma

description: A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.


name: autoimmune disorder of cardiovascular system

description: A hypersensitivity reaction type II disease that involves the cardiovascular system.


name: fatal post-viral neurodegenerative disorder


bifid nose, autosomal recessive

description: Autosomal recessive form of bifid nose.


laryngotracheitis

description: An inflammation of both larynx and trachea.


name: auditory neuropathy, autosomal dominant 3


name: polyarticular juvenile idiopathic arthritis


Kyasanur forest disease

description: Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.


name: intellectual developmental disorder, X-linked 111


holoprosencephaly 7

description: Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.


spinal muscular atrophy type 0

description: A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.


name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities


name: genitourinary and/or brain malformation syndrome


vibrio infectious disease

description: Infections with bacteria of the genus vibrio.


Paris-Trousseau thrombocytopenia

description: Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.


primary ciliary dyskinesia 12

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.


description: Trichostrongyloidiasis that occurs in non-human animals.


name: spondyloepiphyseal dysplasia with punctate corneal dystrophy


description: Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.


name: congenital insensitivity to pain with severe intellectual disability


atelosteogenesis type II

description: A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.


synucleinopathy

description: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]


heart defects-limb shortening syndrome

description: Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.


description: This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.


femur-fibula-ulna complex

description: Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.


lymph node palisaded myofibroblastoma

description: A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.


name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome


non-distal trisomy 9q

description: Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.


malignant testicular Leydig cell tumor

description: A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.


gonosome anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.


name: intellectual disability, autosomal dominant 15

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.


pancreatic cancer, susceptibility to, 3

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.


name: intellectual disability, autosomal recessive 18

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.


hyperparathyroidism, transient neonatal

description: Hyperparathyroidism in an infant less than one month of age that resolves spontaneously.


name: gastroenteritis, transmissible, of swine

description: A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus.


name: systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

description: Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).


muscle-eye-brain disease

description: A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.


name: limb transversal defect-cardiac anomaly syndrome


diabetes mellitus, domestic cat

description: Diabetes mellitus that occurs in domestic cat.


name: autosomal recessive Ehlers-Danlos syndrome, vascular type

description: The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


name: precursor B-cell acute lymphoblastic leukemia

description: The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)


name: camptodactyly joint contractures and facial skeletal dysplasia


Scott syndrome

description: Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.


meningococcal infection

description: Infections with bacteria of the species neisseria meningitidis.


autosomal dominant Alport syndrome

description: Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.


neonatal dacryocystitis

description: Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.


name: autosomal dominant nonsyndromic hearing loss 16

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.


name: proteasome-associated autoinflammatory syndrome 4


Charles bonnet syndrome

description: Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.


Seckel syndrome 6

description: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.


McDonough syndrome

description: A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.


recessive X-linked ichthyosis

description: A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.


blue rubber bleb nevus

description: Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.


name: adult familial nephronophthisis-spastic quadriparesia syndrome

description: This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.


enzootic bovine leukosis

description: A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.


name: malignant mixed epithelial stromal tumor of the kidney

description: A mixed epithelial stromal tumor of the kidney with malignant stromal features.


name: embryonal rhabdomyosarcoma, non-human animal

description: Embryonal rhabdomyosarcoma that occurs in non-human animals.


name: non-syndromic bicoronal and metopic craniosynostosis


familial sick sinus syndrome

description: Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.


severe hypophosphatasia

description: Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.


narcolepsy, sheep

description: Narcolepsy that occurs in sheep.


name: familial adrenal hypoplasia with absent pituitary luteinizing hormone


name: leukemia, chronic lymphocytic, susceptibility to, 1


asternia

description: Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.


Escherichia coli meningitis

description: A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)


name: immunodeficiency 72 with autoinflammation


ascariasis

description: An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.


round ligament malignant neoplasm

description: A malignant neoplasm involving the round ligament of uterus.


name: pruritic urticarial papules and plaques of pregnancy


hypercholesterolemia, familial, 1

description: An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.


name: brain malformation-congenital heart disease-postaxial polydactyly syndrome

description: Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.


pleomorphic liposarcoma

description: Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.


eclampsia, dog

description: Eclampsia that occurs in dog.


name: acroosteolysis-keloid-like lesions-premature aging syndrome


isosporiasis

description: An intestinal infection with Isospora belli.


advanced sleep phase syndrome

description: A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.


familial isolated hyperparathyroidism

description: A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.


tuberculous epididymitis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.


cocoon syndrome

description: Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.


name: schmid metaphyseal chondrodysplasia dwarfism, non-human animal

description: Schmid metaphyseal chondrodysplasia dwarfism that occurs in non-human animals.


name: autosomal recessive nonsyndromic hearing loss 21

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


name: midline malformations, multiple, with limb abnormalities and hypopituitarism


name: cerebral arteriopathy with subcortical infarcts and leukoencephalopathy


description: Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.


pemphigoid gestationis

description: A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.


name: autosomal recessive nonsyndromic hearing loss 32

description: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.


uterine ligament neoplasm

description: A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.


name: palmoplantar keratoderma, punctate type 1A

description: Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.


aberrant subclavian artery

description: Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..


name: familial hyperthyroidism due to mutations in TSH receptor

description: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.


tetralogy of fallot, domestic cat

description: Tetralogy of fallot that occurs in domestic cat.


mirror movements 1

description: Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.


anauxetic dysplasia

description: A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.


name: short-rib thoracic dysplasia 15 with polydactyly


complement component 4a deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.


chromosome 6 disorder

description: Chromosomal disorder in which chromosome 6 is affected.


galactosemia, kangaroo

description: Galactosemia that occurs in kangaroo.


name: autosomal dominant nonsyndromic hearing loss 50

description: An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.


conotruncal heart malformations, dog

description: Conotruncal heart malformations that occurs in dog.


name: porcine postweaning multisystemic wasting syndrome

description: A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 3

description: A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.


subcutaneous tissue disorder

description: A disease involving the superficial fascia.


Adams-Oliver syndrome 4

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


avian leukosis

description: A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.


primary progressive freezing gait

description: Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.


Alzheimer disease 17

description: An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.


name: pyruvate carboxylase deficiency, severe neonatal type

description: Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.


nephronophthisis 19

description: Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.


name: pneumonia, progressive interstitial, of sheep

description: Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity.


name: fibular aplasia, tibial campomelia, and oligosyndactyly syndrome


Liberfarb syndrome

description: A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.


name: 46,XX true hermaphroditism, SRY-positive


Birk-Barel syndrome

description: Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).


common variable immunodeficiency

description: Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.


polyneuropathy-hand defect syndrome

description: Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.


schizophrenia 5

description: A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.


hypertrophic lichen planus

description: A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.


embryonal rhabdomyosarcoma, cattle

description: Embryonal rhabdomyosarcoma that occurs in cattle.


name: mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1

description: A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).


intellectual disability, X-linked 41

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.


isolated delta-storage pool disease

description: Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.


description: Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.


osteochondritis dissecans, dog

description: Osteochondritis dissecans that occurs in dog.


beta-thalassemia intermedia

description: Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.


mild pre-eclampsia

description: A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.


cerebellar degeneration, chicken

description: Cerebellar degeneration that occurs in chicken.


Achilles bursitis

description: An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.


6q terminal deletion syndrome

description: 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.


gnathodiaphyseal dysplasia

description: Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.


name: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

description: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.


name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2


name: myopathy with giant abnormal mitochondria


ventricular septal defect, alpaca

description: Ventricular septal defect that occurs in alpaca.


name: microcephaly with or without short stature

description: Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.


episodic ataxia type 1

description: Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.


Mansonella ozzardi infection

description: An infection that is caused by the organism Mansonella ozzardi.


methamphetamine dependence

description: A drug dependence that is a psychological dependency on the regular use of methamphetamine.


chorea, benign familial

description: Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.


name: obesity due to melanocortin 4 receptor deficiency

description: Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.


uncombable hair syndrome 3

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.


inferolateral myocardial infarct

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.


parasitic eye infection

description: Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.


name: structural brain anomalies with impaired intellectual development and craniosynostosis


name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type


SATB2 associated disorder

description: A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.


description: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.


name: TH-deficient infantile parkinsonism and motor delay

description: A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).


name: Seckel like syndrome majoor-krakauer type


name: neurodevelopmental disorder with poor language and loss of hand skills


glioependymal/ependymal cyst

description: Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).


viral meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.


central nervous system leiomyoma

description: A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.


adenosarcoma

description: A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.


dependent personality disorder

description: A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.


name: tremor of intention, ataxia, and lipofuscinosis


trichostasis spinulosa

description: Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.


mosaic trisomy 14

description: Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.


chorea-acanthocytosis

description: Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.


name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


Peters anomaly, snow leopard

description: Peters anomaly that occurs in snow leopard.


name: age-related macular degeneration, non-human animal

description: Age-related macular degeneration that occurs in non-human animals.


bladder lymphoma

description: A lymphoma that involves the urinary bladder.


disorder of protein N-glycosylation

description: A disease that has its basis in the disruption of protein N-linked glycosylation.


glycogen storage disease IXb

description: A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.


partial lipodystrophy

description: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


vector-borne disease

description: An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.


dengue disease

description: Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).


glycogen storage disease III

description: Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.


mosaic trisomy 20

description: Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.


name: spondylometaphyseal dysplasia, Golden type

description: Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.


name: neurodevelopmental disorder with hypotonia and characteristic brain abnormalities


diprosopus, sheep

description: Diprosopus that occurs in sheep.


Wieacker-Wolff syndrome

description: A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.


axial mesodermal dysplasia spectrum

description: Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.


avoidant personality disorder

description: A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.


Evans syndrome, non-human animal

description: Evans syndrome that occurs in non-human animals.


name: agammaglobulinemia, autosomal recessive, due to BOB1 deficiency

description: Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.


branchial arch disease

description: A disease that involves the pharyngeal system development.


name: epidermolysis bullosa simplex due to plakophilin deficiency

description: Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.


diffuse cutaneous systemic sclerosis

description: Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).


name: maternal uniparental disomy of chromosome 1

description: Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


brittle cornea syndrome 1

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.


name: respiratory papillomatosis, juvenile recurrent, congenital


name: T-B+ severe combined immunodeficiency due to CD45 deficiency


specific language disorder

description: A disorder characterized by impairment of verbal communication skills, often resulting from brain damage.


microphthalmia, water buffalo

description: Microphthalmia that occurs in water buffalo.


Dent disease type 1

description: Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.


name: isolated Dandy-Walker malformation with hydrocephalus


posterior corneal dystrophy

description: Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.


name: lissencephaly with cerebellar hypoplasia type A

description: Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.


Toriello-Carey syndrome

description: Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.


name: short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies


Leber congenital amaurosis 11

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.


chorea gravidarum

description: A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)


name: short-rib thoracic dysplasia 9 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.


name: central nervous system organ benign neoplasm

description: A benign neoplasm that involves the central nervous system.


blue diaper syndrome

description: Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.


hypomyelinating leukodystrophy 11

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.


primary thrombocytopenia

description: Evidence of other primary thrombocytopenia not specified elsewhere.


polycystic kidney disease 5

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.


spirillary rat-bite fever

description: Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.


name: mitochondrial complex 4 deficiency, nuclear type 10


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


name: neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


name: global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies


name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


dentigerous cyst

description: Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.


name: early-onset generalized limb-onset dystonia

description: A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.


lipoic acid synthetase deficiency

description: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


name: developmental and epileptic encephalopathy 100


name: partial bilateral aplasia of the mullerian ducts


dropped head syndrome

description: A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.


name: skeletal dysplasia and progressive central nervous system degeneration, lethal


renal dysplasia, non-human animal

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


name: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


name: idiopathic steroid-sensitive nephrotic syndrome

description: Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.


name: combined immunodeficiency due to OX40 deficiency

description: Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.


name: combined oxidative phosphorylation deficiency 56


persistent Mullerian duct syndrome

description: Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.


RIDDLE syndrome

description: An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.


Meacham syndrome

description: Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.


microphthalmia, isolated, with coloboma

description: A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.


pontocerebellar hypoplasia type 10

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.


name: acute myeloid leukemia, t(8;21)(q22; q22.1)

description: An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.


active tuberculosis

description: Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.


limited systemic sclerosis

description: Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.


extraskeletal myxoid chondrosarcoma

description: A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.


Pontiac fever

description: Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.


cervical adenomyoma

description: A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.


name: catecholaminergic polymorphic ventricular tachycardia 3

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.


transient arthritis

description: Arthritis that is not permanent.


name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


name: hemolytic disease of fetus and newborn, RH-induced


malignant histiocytosis, dog

description: Malignant histiocytosis that occurs in dog.


name: MYT1L-related developmental delay-intellectual disability-obesity syndrome


necrotizing vasculitis

description: A type of vasculitis that is comprised of vasculitides that present with necrosis.


name: autosomal dominant limb-girdle muscular dystrophy type 1H

description: Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.


mixed gonadal dysgenesis

description: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.


tricuspid valve disorder

description: A disease involving the tricuspid valve.


infectious bovine rhinotracheitis

description: A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.


name: split-hand and split-foot with hypodontia


swine disease

description: Diseases of domestic swine and of the wild boar of the genus Sus.


omphalocele, cattle

description: Omphalocele that occurs in cattle.


name: SRD5A3-congenital disorder of glycosylation

description: A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.


name: retroperitoneal inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


pharyngoconjunctival fever

description: A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.


distal trisomy 10q

description: Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.


name: inborn disorder of tryptophan metabolism

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


retinitis pigmentosa 60

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.


kwashiorkor

description: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)


name: developmental and epileptic encephalopathy 107

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.


congenital ectropion uveae

description: Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.


delta-heavy chain disease

description: A heavy chain disease that results from an overproduction of delta antibody (IgD).


name: sporadic idiopathic steroid-resistant nephrotic syndrome

description: Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.


name: intellectual disability, X-linked, with panhypopituitarism


name: intellectual developmental disorder with dysmorphic facies and ptosis


cardiac tuberculosis

description: Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.


name: deafness, cataract, retinitis pigmentosa, and sperm abnormalities


name: neurodevelopmental disorder with speech impairment and dysmorphic facies


bladder sarcoma

description: A malignant mesenchymal cell neoplasm that affects the urinary bladder.


peritoneal benign neoplasm

description: A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.


radiation cystitis

description: Inflammation of the bladder due to irradiation.


bone leiomyosarcoma

description: A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.


malignant childhood germ cell neoplasm

description: A malignant germ cell tumor that occurs during childhood.


name: mesomelic dysplasia-digital anomalies-intellectual disability syndrome


name: dyskeratosis congenita, autosomal recessive 5

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.


name: congenital muscular dystrophy with intellectual disability


X-linked nonsyndromic hearing loss

description: X-linked form of nonsyndromic deafness.


name: primordial dwarfism and slender bone disorder

description: A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


benign neoplasm of floor of mouth

description: A benign neoplasm that involves the mouth floor.


name: intellectual disability, autosomal dominant 45


name: autosomal recessive syndromic cerebellar ataxia


chromosome 20 trisomy

description: Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.


trichostrongylosis

description: Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.


Kashin-Beck disease

description: Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.


name: idiopathic mast cell activation syndrome

description: Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.


name: retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome

description: An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.


name: left superior vena cava persisting to left-sided atrium


osteoarthritis, domestic cat

description: Osteoarthritis that occurs in domestic cat.


fungal infection of eye

description: Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.


name: developmental and epileptic encephalopathy, 17

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


bovine leukemia

description: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle


name: amelogenesis imperfecta hypomaturation type 2A4

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.


ectropion, non-human animal

description: Ectropion that occurs in non-human animals.


name: amastia, bilateral, with ureteral triplication and dysmorphism


patent urachus, sheep

description: Patent urachus that occurs in sheep.


inherited ichthyosis

description: Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.


Pseudomonas aeruginosa PA14 infection

description: A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.


reticulum cell sarcoma

description: An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.


deafness-hypogonadism syndrome

description: This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.


salivary duct calculi

description: Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.


non-human ape disease

description: Diseases of chimpanzees, gorillas, and orangutans.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.


name: RBFOX2-related congenital heart disorder

description: Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.


GRACILE syndrome

description: GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).


auditory neuropathy

description: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.


osteonecrosis of genetic origin

description: An instance of osteonecrosis that is caused by a modification of the individual's genome.


nasal glial heterotopia

description: Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.


name: adenosine triphosphatase deficiency, anemia due to


name: spondyloepiphyseal dysplasia with congenital joint dislocations

description: CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.


lipoma of spermatic cord

description: A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.


Seckel syndrome 1

description: Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.


retinal degeneration, domestic cat

description: Retinal degeneration that occurs in domestic cat.


Imerslund-Grasbeck syndrome type 1

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.


opsismodysplasia

description: Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.


name: nebulin-related early-onset distal myopathy


multiple synostoses syndrome 2

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.


multiple epiphyseal dysplasia type 1

description: Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.


parachute tricuspid valve

description: Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.


adult-onset Still disease

description: A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.


endometrial polyp

description: A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.


name: intellectual disability, autosomal dominant 22

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.


acute neonatal citrullinemia type I

description: Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


lipoblastoma

description: A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.


scleromyxedema

description: Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.


name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


cardiac ventricle disorder

description: A disease or disorder that involves the cardiac ventricle.


tetrasomy 18p

description: Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.


name: syndrome caused by partial chromosomal duplication of the short arm of chromosome 9


name: generalized epilepsy with febrile seizures plus, type 8


hip dysplasia, Beukes type

description: Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.


name: congenital erosive and vesicular dermatosis


name: neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


ALECT2 amyloidosis

description: A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.


name: primary cutaneous CD30+ T-cell lymphoproliferative disease


lichen planus, familial

description: An instance of lichen planus that is caused by an inherited modification of the individual's genome.


name: catecholaminergic polymorphic ventricular tachycardia 5

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.


group B streptococcal infection

description: A disease caused by infection with Group B Streptococcus.


name: autosomal recessive nonsyndromic hearing loss 76

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.


name: nasopharyngeal carcinoma, susceptibility to, 1

description: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.


hematologic disorder, non-human animal

description: Hematologic disorder that occurs in non-human animals.


hemochromatosis type 2B

description: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.


Troyer syndrome

description: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.


name: qualitative or quantitative defects of protein SERCA1


name: developmental and epileptic encephalopathy, 54


name: congenital anomaly of superior vena cava


name: cholestasis with gallstone, ataxia, and visual disturbance


name: deafness mesenteric diverticula of small bowel neuropathy


atrichia with papular lesions

description: Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.


name: progressive supranuclear palsy-corticobasal syndrome

description: PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


neonatal hemochromatosis

description: Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4


name: autosomal dominant proximal renal tubular acidosis

description: Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.


name: motor neuron disease with dementia and ophthalmoplegia


name: congenital primary megaureter, refluxing form


cataract 14 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.


neuronal ceroid lipofuscinosis 2

description: A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


diabetes mellitus, non-human animal

description: Diabetes mellitus that occurs in non-human animals.


GNAT2-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.


laryngeal neuroendocrine neoplasm

description: A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.


name: autoimmune pulmonary disease due to PD-1 deficiency

description: An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.


name: intellectual disability-hypotonic facies syndrome, X-linked, 1

description: A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.


ferro-cerebro-cutaneous syndrome

description: Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.


name: qualitative or quantitative defects of dysferlin