ring chromosome 7

description: Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).


name: ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

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

description: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.


aluminosis

description: Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.


cocaine abuse

description: Disorders related or resulting from use of cocaine.


name: frontonasal dysplasia with alopecia and genital anomaly

description: Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.


cesium poisoning

description: A heavy metal poisoning that is caused by exposure to cesium.


rectal duplication

description: Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.


scarlet fever

description: A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.


name: microgastria-limb reduction defect syndrome

description: This syndrome is characterized by the association of microgastria with a limb reduction defect.


Hepadnaviridae infectious disease

description: Virus diseases caused by the hepadnaviridae.


central diabetes insipidus

description: Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).


premature ovarian failure 11

description: Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.


name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.


Ascaridida infectious disease

description: Infections with nematodes of the order ascaridida.


well-differentiated liposarcoma

description: A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.


name: retinal dystrophy and microvillus inclusion disease


hyperekplexia 4

description: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).


name: congenital infiltrating lipomatosis of the face


1q44 microdeletion syndrome

description: 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


multiple intestinal atresia

description: A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.


name: congenital muscular dystrophy caused by variation in POMGNT2

description: Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.


name: postaxial polydactyly type A, unilateral


inherited auditory system disease

description: An instance of auditory system disease that is caused by an inherited modification of the individual's genome.


familial Mediterranean fever

description: Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.


axillary lymphadenitis

description: An infection of the lymph nodes in the axilla.


name: autosomal recessive nonsyndromic hearing loss 24

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


primary ciliary dyskinesia 1

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.


name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.


hypochondriasis

description: A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.


ethylmalonic encephalopathy

description: Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.


glycogen storage disease VI

description: Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.


name: qualitative or quantitative defects of titin


name: Yersinia pseudotuberculosis infectious disease

description: Infections with bacteria of the species yersinia pseudotuberculosis.


acute myeloid leukemia, t(11;17)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)


myopia 6

description: Any myopia in which the cause of the disease is a mutation in the SCO2 gene.


pseudohypoaldosteronism type 2

description: A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.


crush syndrome

description: A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.


mixed germ cell tumor

description: A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.


benign neoplasm of corpus uteri

description: A benign neoplasm that involves the body of uterus.


name: hyperphosphatemia, polyuria, and seizures


de Barsy syndrome

description: A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.


name: non-acquired pituitary hormone deficiency


toxascariasis

description: Infections with nematodes of the genus toxascaris.


moderate hypophosphatasia

description: Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.


spinocerebellar ataxia 47

description: A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.


AP-4 deficiency syndrome

description: A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.


spina bifida, sheep

description: Spina bifida that occurs in sheep.


kyphoscoliotic heart disease

description: Evidence of kyphoscoliotic heart disease.


granuloma inguinale

description: A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.


aneuploidy

description: Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.


corneal dystrophy, Fuchs endothelial, 3

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.


encephalitis lethargica

description: A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.


mixed cryoglobulinemia type III

description: Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.


renal agenesis, dog

description: Renal agenesis that occurs in dog.


Usher syndrome type 1G

description: Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.


cancerophobia

description: An overwhelming, irrational, and persistent fear of being diagnosed with cancer.


name: male infertility with teratozoospermia due to single gene mutation

description: Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.


name: corpus callosum dysgenesis hypopituitarism


benign thyroid gland neoplasm

description: A benign neoplasm arising from the thyroid gland.


laryngo-onycho-cutaneous syndrome

description: LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.


Meier-Gorlin syndrome 4

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.


nephronophthisis 7

description: Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.


retinal capillary malformation

description: Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.


TCF12-related craniosynostosis

description: Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.


name: combined oxidative phosphorylation deficiency 32


postauricular lymphadenitis

description: Inflammation of the postauricular lymph nodes.


name: glycerol kinase deficiency, infantile form

description: Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.


name: feline bronchioloalveolar lung carcinoma

description: Bronchioloalveolar lung carcinoma that occurs in a cat.


name: frontonasal dysplasia Klippel feil syndrome


isolated dystonia

description: A dystonia (disease) that is not part of a larger syndrome.


Bartter disease type 3

description: Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


monocular esotropia

description: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.


name: hereditary sensory and autonomic neuropathy type 4

description: Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.


name: macrogyria, pseudobulbar palsy and intellectual disability


name: vertebral hypersegmentation and orofacial anomalies


epithelial-stromal TGFBI dystrophy

description: Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.


name: congenital generalized lipodystrophy type 2

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.


name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies


cataract 42

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.


spina bifida, non-human animal

description: Spina bifida that occurs in non-human animals.


name: adult progressive spinal muscular atrophy, Aran Duchenne type

description: A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.


name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


name: polyneuropathy, inflammatory demyelinating, chronic


name: paternal uniparental disomy of chromosome 21

description: Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


name: odontomatosis-aortae esophagus stenosis syndrome

description: Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.


inverse Marcus-Gunn phenomenon

description: Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.


vasculogenic impotence

description: Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.


name: infantile neuronal ceroid lipofuscinosis

description: A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.


name: isolated autosomal dominant hypomagnesemia, Glaudemans type

description: Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.


bulbar polio

description: A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)


limb ischemia

description: A ischemia that involves the limb.


name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation


dysautonomia, domestic cat

description: Dysautonomia that occurs in domestic cat.


Basedow's coma

description: A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.


name: pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


name: Niemann-Pick disease type C, severe early infantile neurologic onset


vagina leiomyosarcoma

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


streptococcal meningitis

description: An infectious meningitis caused by infection with Streptococcus.


name: pituitary deficiency due to empty sella turcica syndrome


cutaneous botryomycosis

description: A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).


name: malignant giant cell tumor of soft parts

description: An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.


Drosophila C virus infection

description: A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses.


feline progressive histiocytosis

description: A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.


miliaria

description: A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.


name: developmental delay, language impairment, and ocular abnormalities


L1 syndrome

description: L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.


coinfection

description: The simultaneous infection of a host by multiple pathogen species.


name: hydrocephalus, congenital, 3, with brain anomalies


name: Pseudomonas aeruginosa infectious disease


name: nasal cavity and paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


name: kallikrein, decreased urinary activity of


microphthalmia, Nile tilapia

description: Microphthalmia that occurs in Nile tilapia.


glycerol kinase deficiency, adult form

description: Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.


Gaucher disease type III

description: Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.


name: endometrioid stromal and related neoplasms of the cervix

description: A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


Marie Unna hereditary hypotrichosis

description: A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.


bacterial sexually transmitted disease

description: Bacterial diseases that are potentially transmitted or propagated by sexual conduct.


connective and soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.


myofibrillar myopathy, horse

description: Myofibrillar myopathy that occurs in horse.


extrarenal rhabdoid tumor

description: A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


name: echinococcus granulosus infectious disease

description: An disease or disorder caused by infection with Echinococcus granulosus.


name: radial deficiency-tibial hypoplasia syndrome


achondrogenesis

description: Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.


myopathy, dog

description: Myopathy that occurs in dog.


ureter leiomyoma

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


name: intellectual developmental disorder, X-linked 110


intracranial abscess

description: An abscess that is located in the intracranial space.


name: erythrokeratodermia variabilis et progressiva 3


alexithymia

description: An agnosia that is a deficiency in understanding, processing, or describing emotions.


name: precursor T-cell acute lymphoblastic leukemia


name: mirror polydactyly-vertebral segmentation-limbs defects syndrome

description: Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.


name: Cantu Sanchez-Corona Garcia-Cruz syndrome


homocarnosinosis

description: Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


name: facial abnormalities, kyphoscoliosis, and intellectual disability


name: spinal muscular atrophy with respiratory distress type 2

description: Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.


name: myopathy with hexagonally cross-linked tubular arrays

description: Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.


name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


phenobarbital embryopathy

description: A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.


postaxial acrofacial dysostosis

description: Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.


name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

description: A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.


alpha-mannosidosis, sheep

description: Alpha-mannosidosis that occurs in sheep.


nasal dermoid cyst

description: A dermoid cyst that involves the nose.


urolithiasis, goat

description: Urolithiasis that occurs in goat.


name: combined immunodeficiency due to GINS1 deficiency


spinal cord ischemia

description: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.


hypotrichosis 10

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.


name: autosomal dominant epidermolytic ichthyosis

description: An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.


scleral disorder

description: A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.


Banki syndrome

description: Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.


large cell medulloblastoma

description: A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.


Warburg micro syndrome 3

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.


name: congenital stenosis of cervical medullary canal


exfoliative ichthyosis

description: Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.


platelet-type bleeding disorder 8

description: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.


integrative agnosia

description: Agnosia characterized by the inability to integrate perceptual wholes within knowledge.


name: hemangioma, capillary infantile, susceptibility to

description: An inherited susceptibility or predisposition to developing capillary infantile hemangioma.


name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

description: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.


cataract 26 multiple types

description: A cataract that has material basis in variation in the region 9q13-q22.


hyperostosis, pig

description: Hyperostosis that occurs in pig.


name: combined oxidative phosphorylation deficiency 49


name: selective intrauterine growth restriction


non-seminomatous lesion

description: A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.


chronic salpingitis

description: Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.


patent ductus arteriosus, sheep

description: Patent ductus arteriosus that occurs in sheep.


name: X-linked intellectual disability, Cantagrel type

description: X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.


name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


name: Usmani-Riazuddin syndrome, autosomal recessive


dracunculiasis

description: Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).


male infertility due to globozoospermia

description: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.


alternating hemiplegia of childhood 2

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.


name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

description: A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.


endothrix infectious disease

description: A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.


Olmsted syndrome 1

description: Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.


name: epidermolysis bullosa simplex 2E, with migratory circinate erythema

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.


tibial aplasia-ectrodactyly syndrome

description: Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.


alcohol withdrawal delirium

description: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)


dental fluorosis

description: A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.


butyrylcholinesterase deficiency

description: Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.


name: spinocerebellar ataxia, autosomal recessive 25


name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.


name: autosomal dominant cerebellar ataxia type II

description: An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.


hypotonia-cystinuria syndrome

description: A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.


myofibrillar myopathy 4

description: Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.


acrorenal syndrome, autosomal recessive

description: Autosomal recessive form of acrorenal syndrome.


name: autosomal dominant cerebellar ataxia type III

description: Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.


laryngeal leiomyosarcoma

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


human prion disease

description: Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).


Eagle syndrome

description: Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.


name: autoinflammation with episodic fever and immune dysregulation


description: An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.


name: autosomal dominant nonsyndromic hearing loss 13

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


Pelger-Huet anomaly, rabbit

description: Pelger-Huet anomaly that occurs in rabbit.


name: cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation


name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


retinoschisis, autosomal dominant

description: Autosomal dominant form of retinoschisis.


description: Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.


name: autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

description: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.


name: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


name: classic eosinophilic pustular folliculitis


name: circadian rhythm sleep disorder, irregular sleep wake type

description: A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.


disorder of sphingolipid biosynthesis

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


schizophrenia 10

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.


name: autosomal dominant nonsyndromic hearing loss

description: Autosomal dominant form of nonsyndromic deafness.


isolated congenital anonychia

description: Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.


hemochromatosis type 2A

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


pleomorphic rhabdomyosarcoma

description: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.


name: combined oxidative phosphorylation defect type 23

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.


name: methylmalonic aciduria and/or homocystinuria, cblD type

description: An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.


name: autosomal dominant combined immunodeficiency due to partial IL6ST deficiency


name: pancreatic beta cell agenesis with neonatal diabetes mellitus


diabetes insipidus, domestic cat

description: Diabetes insipidus that occurs in domestic cat.


thyroid dyshormonogenesis 2A

description: Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.


schizophrenia 1

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.


miliaria profunda

description: A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.


skull cancer

description: A malignant neoplasm involving the skull.


Leber congenital amaurosis 13

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.


fructose-1,6-bisphosphatase deficiency

description: Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.


name: intellectual disability, autosomal recessive 19


hydroa vacciniforme, familial

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


name: spinocerebellar ataxia, autosomal recessive 31


name: short-rib thoracic dysplasia 20 with polydactyly

description: Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).


name: combined oxidative phosphorylation defect type 4

description: Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.


essential hypertension, dog

description: Essential hypertension that occurs in dog.


polydactyly of an index finger

description: Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.


name: autosomal dominant nonsyndromic hearing loss 6

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.


name: atypical hemolytic-uremic syndrome with anti-factor H antibodies


acquired mineral metabolism disease

description: An instance of mineral metabolism disease that is acquired during the lifetime of the individual.


name: autosomal dominant Charcot-Marie-Tooth disease type 2W

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.


intellectual disability, X-linked 96

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


name: pulmonary atresia with ventricular septal defect

description: Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.


neurofibromatosis type 2

description: A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.


Cornelia de Lange syndrome 3

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.


canine sarcoma

description: A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.


phacoanaphylactic uveitis

description: Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.


diabetes mellitus, domestic guinea pig

description: Diabetes mellitus that occurs in domestic guinea pig.


name: dominant pericentral pigmentary retinopathy

description: A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.


name: medulloblastoma SHH activated and TP53 mutant

description: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.


description: 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated.


intraocular retinoblastoma

description: Retinoblastoma restricted to local involvement.


choanal atresia, sheep

description: Choanal atresia that occurs in sheep.


neurocirculatory asthenia

description: A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.


sphenoorbital meningioma

description: A meningioma that affects the sphenoorbital region.


name: HBA1; HBA2-related digenic alpha thalassemia spectrum

description: Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).


name: brachydactyly-elbow wrist dysplasia syndrome

description: Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.


thyroid hypoplasia

description: Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


schwannomatosis, non-human animal

description: Schwannomatosis that occurs in non-human animals.


name: idiopathic hypersomnia without long sleep time

description: Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.


torsion dystonia with onset in infancy

description: A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.


hyperkalemic renal tubular acidosis

description: Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.


name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome

description: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.


necrotic uveal melanoma

description: A uveal melanoma characterized by the presence of tumor cell necrosis.


clivus chondroid chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.


name: idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis


exocrine pancreatic insufficiency, dog

description: Exocrine pancreatic insufficiency that occurs in dog.


fibroepithelial neoplasm

description: A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.


name: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

description: The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.


radiculitis

description: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.


porphyria cutanea tarda, pig

description: Porphyria cutanea tarda that occurs in pig.


psychosocial short stature

description: A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.


Rahman syndrome

description: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).


spastic ataxia 2

description: Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.


endocrine exophthalmos

description: Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.


description: A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.


salmonella infections, animal

description: Infections in animals with bacteria of the genus salmonella.


osteogenesis imperfecta type 9

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.


name: acute myeloid leukemia, GATA1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)


paraphilic disorder

description: Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)


cholesterol embolism

description: Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.


chicken hepatoma

description: Hepatoma that occurs in a chicken.


polycystic kidney disease, markhor

description: Polycystic kidney disease that occurs in markhor.


short QT syndrome type 3

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.


fingerprint body myopathy

description: Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.


Wilson disease, domestic cat

description: Wilson disease that occurs in domestic cat.


Quinquaud's folliculitis decalvans

description: Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.


name: internal pathological resorption of tooth


Simpson-Golabi-Behmel syndrome type 2

description: Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.


congenital smooth muscle hamartoma

description: Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.


name: hereditary persistence of fetal hemoglobin-intellectual disability syndrome


name: autosomal dominant nonsyndromic hearing loss 70

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.


tinea nigra

description: A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.


name: myopathy, myosin storage, autosomal recessive


distal monosomy 12p

description: Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.


superficial corneal dystrophy

description: The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.


name: autoimmune disorder of the nervous system

description: A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.


granulocytic sarcoma

description: A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)


periodontitis, non-human animal

description: Periodontitis that occurs in non-human animals.


name: localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

description: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.


malignant giant cell tumor

description: A malignant neoplasm characterized by then presence of atypical giant cells.


name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum


carcinoid crisis

description: A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.


childhood kidney Wilms tumor

description: A Wilms tumor of the kidney which occurs in children.


name: peroxisome biogenesis disorder due to PEX2 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.


spinocerebellar ataxia type 21

description: Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.


trisomy 1q

description: Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.


name: hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses


Friedreich ataxia 2

description: Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11


name: macrocephaly/megalencephaly syndrome, autosomal recessive


name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder


juvenile spondyloarthropathy

description: A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.


epidermal nevus syndrome

description: A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.


name: neuronopathy, distal hereditary motor, type 5C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.


primary ciliary dyskinesia 11

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.


name: neuronopathy, distal hereditary motor, autosomal recessive

description: Autosomal recessive form of distal hereditary motor neuropathy.


name: microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

description: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.


autosomal dominant Robinow syndrome

description: Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.


Biemond syndrome type 2

description: Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.


cardiomyopathy, non-human animal

description: Cardiomyopathy that occurs in non-human animals.


ocular tuberculosis

description: Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.


uterine corpus rhabdomyosarcoma

description: A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.


name: granulomatous autoinflammatory syndrome of childhood


name: arterial calcification, generalized, of infancy, 2

description: Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


name: autosomal recessive nonsyndromic hearing loss 51

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.


name: isolated primary pigmented nodular adrenocortical disease


name: intellectual disability, autosomal dominant 40

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.


chester porphyria

description: Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.


name: congenital disorder of glycosylation type II

description: A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.


chondrocalcinosis 2

description: A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).


Japanese spotted fever

description: A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.


name: spastic diplegia and intellectual disability


name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

description: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.


name: multiple self-healing squamous epithelioma

description: Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.


name: arthrogryposis due to muscular dystrophy


name: hypogonadotropic hypogonadism 17 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.


transcobalamin II deficiency

description: Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.


arterial calcification of infancy

description: Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.


COACH syndrome 1

description: Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.


name: autoimmune disease, multisystem, infantile-onset, 2

description: Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.


name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2


benign exophthalmos syndrome

description: Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.


name: spondyloepiphyseal dysplasia tarda, autosomal recessive

description: Autosomal recessive form of spondyloepiphyseal dysplasia tarda.


Arts syndrome

description: Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.


auditory perceptual disorders

description: Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.


tetanus

description: A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.


chlamydiaceae infections

description: Infections with bacteria of the family CHLAMYDIACEAE.


name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities


cystic hygroma, non-human animal

description: Cystic hygroma that occurs in non-human animals.


phonagnosia

description: An agnosia that is a loss of the ability to recognize familiar voices.


name: dermoid or epidermoid cyst of the central nervous system

description: A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.


name: intellectual disability-polydactyly-uncombable hair syndrome

description: Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.


olfactory nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.


name: polydactyly of a triphalangeal thumb, unilateral


primary polydipsia

description: A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink.


salmonid viral hemorrhagic septicemia

description: A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus),


pityriasis rosea, pig

description: Pityriasis rosea that occurs in pig.


name: progressive myoclonic epilepsy with dystonia

description: A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.


name: thygeson superficial punctate keratopathy

description: An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.


13q12.3 microdeletion syndrome

description: 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.


cone-rod dystrophy 8

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.


anodontia, dog

description: Anodontia that occurs in dog.


scoliosis, horse

description: Scoliosis that occurs in horse.


velocardiofacial syndrome

description: A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.


primary ciliary dyskinesia 33

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.


GAPO syndrome, non-human animal

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


name: congenital temporomandibular joint ankylosis

description: Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.


hemifacial myohyperplasia

description: Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.


name: intellectual developmental disorder and retinitis pigmentosa; IDDRP


name: Epstein-Barr virus-associated malignant lymphoproliferative disorder

description: A lymphoproliferative disorder associated with Epstein-Barr virus. This category includes, but is not limited to, Burkitt lymphoma, classic Hodgkin lymphoma, and lymphomas arising in immunocompromised individuals.


non-ossifying fibromyxoid tumor

description: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.


name: Cardioneuromyopathy with hyaline masses and nemaline rods


cataract 18

description: Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.


male reproductive organ cancer

description: A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.


tumor of salivary gland

description: A neoplasm (disease) that involves the saliva-secreting gland.


name: multisystem inflammatory syndrome in children and adults


name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome


supranuclear oculomotor palsy

description: Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.


hypotrichosis 2

description: Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.


AA amyloidosis, bats

description: AA amyloidosis that occurs in bats.


name: intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

description: A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.


thyroid sarcoma

description: A malignant soft tissue neoplasm primarily involving the thyroid gland.


craniofacial conodysplasia

description: Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.


name: proteasome-associated autoinflammatory syndrome 3


pseudo-TORCH syndrome

description: A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.


retinitis pigmentosa 36

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


name: intellectual developmental disorder with short stature and behavioral abnormalities


acute nonparalytic poliomyelitis

description: A poliomyelitis that does not exhibit paralysis.


complete hydatidiform mole

description: Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.


tick-borne encephalitis

description: Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.


name: age-related macular degeneration, Rhesus monkey

description: Age-related macular degeneration that occurs in Rhesus monkey.


amoebiasis due to Entamoeba histolytica

description: A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.


acatalasia

description: A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.


staphylococcus discitis

description: Discitis caused by infection with Staphylococcus.


hearing loss, X-linked 6

description: Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.


Mononen-Karnes-Senac syndrome

description: Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.


alopecia mucinosa

description: A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.


name: myopia, high, with cataract and vitreoretinal degeneration


acute gonococcal epididymo-orchitis

description: Acute form of gonococcal epididymo-orchitis.


dissociative disorder

description: A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.


name: congenital heart defects and skeletal malformations syndrome


Ritscher-Schinzel syndrome 1

description: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.


name: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism


syringomyelia, domestic cat

description: Syringomyelia that occurs in domestic cat.


corneal dystrophy, Fuchs endothelial, 1

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


migraine, familial hemiplegic, 2

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.


prekallikrein deficiency, dog

description: Prekallikrein deficiency that occurs in dog.


acrofacial dysostosis Preis type

description: Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: arthrogryposis multiplex with deafness, inguinal hernias, and early death


name: epidermolysis bullosa, junctional 2A, intermediate


name: cholestasis-pigmentary retinopathy-cleft palate syndrome

description: Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.


Seckel syndrome 5

description: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.


vision disorder, non-human animal

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


name: Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay


strongyle infections, equine

description: Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.


name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

description: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.


acute endophthalmitis

description: Acute form of endophthalmitis.


multiple symmetric lipomatosis

description: Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).


otofaciocervical syndrome 1

description: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.


multifocal choroiditis

description: Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.


name: classic congenital lipoid adrenal hyperplasia due to STAR deficency


name: chorioretinopathy dominant form microcephaly


Senior-Loken syndrome 9

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.


cataract 20 multiple types

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


name: STT3B-congenital disorder of glycosylation

description: STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).


tetanic cataract

description: A cataract resulting from hypocalcemia.


hypodermyiasis

description: Infestation with larvae of the genus Hypoderma, the warble fly.


Chapare hemorrhagic fever

description: Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.


canine sebaceous gland epithelioma

description: Sebaceous epithelioma occurring in a dog.


name: epidermolysis bullosa dystrophica Neurotrophica


description: Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.


vascular hyalinosis

description: A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.


juvenile onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.


name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

description: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.


6p22 microdeletion syndrome

description: 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.


name: lissencephaly, familial, with cleft palate and cerebellar hypoplasia


description: A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.


rippling muscle disease 2

description: An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.


silent myocardial infarction

description: A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.


acute gonococcal prostatitis

description: Acute form of gonococcal prostatitis.


name: spondylocostal dysostosis, autosomal recessive, non-human animal

description: Spondylocostal dysostosis, autosomal recessive that occurs in non-human animals.


name: hemolytic anemia due to glucophosphate isomerase deficiency

description: Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.


name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome

description: A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).


name: familial adenomatous polyposis, non-human animal

description: Familial adenomatous polyposis that occurs in non-human animals.


upper clivus meningioma

description: A meningioma that affects the upper clivus.