name: microcephaly 26, primary, autosomal dominant


name: microcephaly 11, primary, autosomal recessive

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

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.


3q26 microduplication syndrome

description: 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.


name: acute transverse myelitis with anti-MOG antibodies


chromosome 3q29 microdeletion syndrome

description: 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.


benign neoplasm of cauda equina

description: A benign neoplasm that involves the cauda equina.


name: autosomal recessive nonsyndromic hearing loss 33

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.


name: neuronopathy, distal hereditary motor, autosomal dominant 11


phlebotomus fever

description: Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.


name: SYNGAP1-related developmental and epileptic encephalopathy

description: A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).


name: glycogen storage disease due to muscle beta-enolase deficiency

description: Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.


name: lymphoadenopathic mastocytosis with eosinophilia


name: familial idiopathic steroid-resistant nephrotic syndrome

description: Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.


glass-chapman-hockley syndrome

description: The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder.


mosaic trisomy 5

description: Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.


non-functioning endocrine neoplasm

description: A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.


cholesterol catabolic process disease

description: A disease that has its basis in the disruption of cholesterol catabolic process.


spondylocamptodactyly syndrome

description: Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.


name: neurodevelopmental disorder with central and peripheral motor dysfunction


nuclear senile cataract

description: A senile cataract that involves the lens nucleus.


spondyloepiphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.


name: diaphragmatic defect-limb deficiency-skull defect syndrome

description: This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.


cataract 38

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


name: ALG11-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).


name: acute myeloid leukemia, NRAS gene mutation

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


congenital bile acid synthesis defect 4

description: An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


metachondromatosis

description: Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.


name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

description: Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.


name: humeroradial synostosis with craniofacial anomalies


name: goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

description: Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.


persistent truncus arteriosus, dog

description: Persistent truncus arteriosus that occurs in dog.


hereditary spastic paraplegia 72

description: Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.


social emotional agnosia

description: An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.


Watson syndrome

description: Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.


lipomatous cancer

description: A malignant mesenchymal neoplasm arising from adipocytes.


name: generalized epilepsy with febrile seizures plus, type 6


chromosome 2 disorder

description: Chromosomal disorder in which chromosome 2 is affected.


name: lethal acantholytic epidermolysis bullosa

description: Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.


name: spastic paraplegia-facial-cutaneous lesions syndrome

description: Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.


name: qualitative or quantitative defects of myofibrillar proteins


roseolovirus infectious disease

description: Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.


name: syndromic X-linked intellectual disability Chudley-Schwartz type

description: A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.


name: auditory system disorder, non-human animal

description: Auditory system disorder that occurs in non-human animals.


hypotrichosis of eyelid

description: A hypotrichosis that involves the eyelid.


name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

description: A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.


familial pterygium of the conjunctiva

description: Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.


persistent truncus arteriosus, cattle

description: Persistent truncus arteriosus that occurs in cattle.


fleck corneal dystrophy

description: Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.


name: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities


glioma susceptibility 3

description: Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.


name: sex chromosome disorder of sex development

description: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.


cardiomyopathy, chicken

description: Cardiomyopathy that occurs in chicken.


name: partial deletion of the short arm of chromosome 2


intellectual disability, X-linked 93

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.


autoimmune disorder of exocrine system

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


d-bifunctional protein deficiency

description: A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.


vitiligo, dog

description: Vitiligo that occurs in dog.


name: indolent primary cutaneous T-cell lymphoma


clonal hematopoiesis

description: A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.


porcine lymphoma

description: Lymphoma that occurs in a pig.


cornea neoplasm

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


geotrichosis

description: Infection due to the fungus Geotrichum.


name: short-rib thoracic dysplasia 13 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.


spina bifida, cattle

description: Spina bifida that occurs in cattle.


familial goiter, sheep

description: Familial goiter that occurs in sheep.


pemphigus foliaceus

description: Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.


X-linked ichthyosis syndrome

description: X-linked form of inherited ichthyosis syndromic form.


chromosome 10 disorder

description: Chromosomal disorder in which chromosome 10 is affected.


IFIH1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.


thymic-renal-anal-lung dysplasia

description: This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.


narcolepsy without cataplexy

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.


odontoleukodystrophy

description: Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.


MYH-6 related congenital heart defects

description: A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.


name: inborn disorder of lysine and hydroxylysine metabolism


chondroid chordoma

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


herpes simplex dermatitis

description: Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.


name: Klippel-Feil syndrome 1, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.


choanal atresia, horse

description: Choanal atresia that occurs in horse.


name: subcutaneous tissue disorder, non-human animal

description: Subcutaneous tissue disorder that occurs in non-human animals.


chronic hiccup

description: Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.


name: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


name: acute myeloid leukemia, t(9;11)(p21.3;q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)


hearing disorder, non-human animal

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


name: pyogenic bacterial infections due to MyD88 deficiency

description: Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.


rigid spine syndrome

description: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.


cystic fibrosis, sheep

description: Cystic fibrosis that occurs in sheep.


Brucella suis brucellosis

description: An disease or disorder caused by infection with Brucella suis.


pseudohypoparathyroidism type 1B

description: Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.


name: isolated optic neuritis with anti-MOG antibodies


intracranial vasospasm

description: Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).


name: symptomatic form of X-linked centronuclear myopathy in female carriers


2q23.1 microdeletion syndrome

description: The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.


name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


physiological polycythemia

description: Polycythemia that is not pathologic.


name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies


ventricular septal defect, turkey

description: Ventricular septal defect that occurs in turkey.


osteochondrosis, chicken

description: Osteochondrosis that occurs in chicken.


hereditary spastic paraplegia 34

description: X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.


tuberculous encephalopathy

description: A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.


paralytic poliomyelitis

description: A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.


childhood carcinoid tumor

description: A rare carcinoid tumor that occurs during childhood.


name: intellectual developmental disorder, autosomal recessive 69


name: palmoplantar keratoderma, epidermolytic, 2


lysosomal storage disease, dog

description: Lysosomal storage disease that occurs in dog.


pseudomembranous conjunctivitis

description: Conjunctivitis that is characterized by formation of a pseudomembrane.


allergic urticaria

description: A urticaria with a basis in a pathological type I hypersensitivity reaction.


fowlpox

description: A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.


name: B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)

description: A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.


name: atrial septal defect, ostium secundum type


pulmonary valve disorder

description: A disease involving the pulmonary valve.


retinitis pigmentosa 11

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.


acute myeloid leukemia, del(13q14-q21)

description: Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)


suppression amblyopia

description: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.


name: upper digestive tract disorder, non-human animal

description: Upper digestive tract disorder that occurs in non-human animals.


hypercholesterolemia, familial, 4

description: An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.


description: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.


orofaciodigital syndrome X

description: Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.


name: X-linked intellectual disability, Stevenson type

description: An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.


name: mitochondrial complex III deficiency nuclear type 4

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.


name: mitochondrial complex 1 deficiency, nuclear type 34


name: congenitally uncorrected transposition of the great arteries with coarctation


retinitis pigmentosa 37

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.


name: developmental and epileptic encephalopathy, 61


name: qualitative or quantitative defects of alpha-actin


mixed testicular germ cell cancer

description: A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.


congenital muscular dystrophy 1B

description: Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.


CNGA1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.


aortic aneurysm, familial thoracic 9

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.


bovine lymphosarcoma

description: Lymphosarcoma that occurs in a cow.


ventricular septal defect, dog

description: Ventricular septal defect that occurs in dog.


Chediak-Higashi syndrome, American mink

description: Chediak-Higashi syndrome that occurs in American mink.


name: familial infantile bilateral striatal necrosis

description: The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.


name: intellectual disability-severe speech delay-mild dysmorphism syndrome

description: Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.


name: autosomal dominant nocturnal frontal lobe epilepsy 5

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


nonanaplastic kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.


syringomyelia, rabbit

description: Syringomyelia that occurs in rabbit.


name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

description: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).


spinal muscular atrophy, domestic cat

description: Spinal muscular atrophy that occurs in domestic cat.


BEST1-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the BEST1 gene.


urolithiasis, horse

description: Urolithiasis that occurs in horse.


parietal foramina 2

description: Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.


pulmonary agenesis, horse

description: Pulmonary agenesis that occurs in horse.


priapism, non-human animal

description: Priapism that occurs in non-human animals.


name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

description: A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.


Kunjin virus infectous disease

description: A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.


description: Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


name: streptococcus pneumoniae-associated hemolytic uremic syndrome


ectasia of the left appendage

description: Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.


Adams-Oliver syndrome

description: Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.


name: HTRA1-related autosomal dominant cerebral small vessel disease


ELOVL4-related maculopathy

description: Any maculopathy caused by a variant in the ELOVL4 gene.


autoimmune disorder of blood

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


name: hypereosinophilic syndrome, non-human animal

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


Fuhrmann syndrome

description: Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.


patent ductus venosus, dog

description: Patent ductus venosus that occurs in dog.


inherited pseudoxanthoma elasticum

description: An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.


name: partial deletion of the long arm of chromosome 12


mechanical ectropion

description: An ectropion with a mechanical etiology.


name: hennekam lymphangiectasia-lymphedema syndrome 3


paroxysmal nocturnal hemoglobinuria 2

description: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.


retinitis pigmentosa 35

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.


name: seizures, benign familial neonatal, autosomal recessive


name: arthrogryposis multiplex congenita 3, myogenic type


name: inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.


name: peroxisome biogenesis disorder due to PEX6 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


Alexander disease, non-human animal

description: Alexander disease that occurs in non-human animals.


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.


name: diffuse palmoplantar keratoderma with painful fissures


dendritic cell deficiency

description: A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.


ABetaL34V amyloidosis

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.


name: progressive dementia with neuroserpin inclusion bodies


refractive error

description: A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.


Bardet-Biedl syndrome 17

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.


description: Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.


intellectual disability, X-linked 21

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.


name: autosomal recessive spastic paraplegia type 67

description: Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.


name: omphalocele syndrome, Shprintzen-Goldberg type

description: Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.


name: atypical progressive supranuclear palsy syndrome

description: Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).


kidney osteogenic sarcoma

description: An osteosarcoma arising from the kidney.


name: breast cancer, familial, susceptibility to, 3


name: metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


visual pathway disorder

description: A disorder of the neural pathway from the optic nerve to the visual cortex.


BEST1-related recessive retinopathy

description: Any retinopathy caused by bi-allelic variants in the BEST1 gene.


name: anatomical narrow angle borderline glaucoma


name: autosomal dominant palmoplantar keratoderma and congenital alopecia

description: Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.


Coffin-Siris syndrome 8

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.


atrial fibrillation, familial, 13

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.


name: developmental and epileptic encephalopathy, 46

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


name: metabolic disease involving other neurotransmitter deficiency


name: combined oxidative phosphorylation deficiency 40


name: early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome


congenital pulmonary valve stenosis

description: Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).


familial multiple fibrofolliculoma

description: Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.


Norrie disease

description: A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.


name: hypomagnesemia, seizures, and intellectual disability


acute thyroiditis

description: Acute form of thyroiditis (disease).


cheirospondyloenchondromatosis

description: Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.


epithelioid cell melanoma

description: A melanoma characterized by the presence of malignant large epithelioid melanocytes.


description: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.


name: oocyte/zygote/embryo maturation arrest 19


name: congenital primary megaureter, nonrefluxing and unobstructed form


Bardet-Biedl syndrome 9

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.


name: spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

description: A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.


familial benign flecked retina

description: Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.


mucosulfatidosis

description: Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.


name: intellectual disability, autosomal dominant 56


chronic salpingo-oophoritis

description: Chronic form of salpingo-oophoritis.


polymyositis, non-human animal

description: Polymyositis that occurs in non-human animals.


name: benign neoplasm of peripheral nervous system


deep leiomyoma

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


mononeuritis of lower limb

description: A mononeuritis simplex that involves the hindlimb.


name: rhizomelic dysplasia, Patterson-Lowry type

description: Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.


description: Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.


name: patent ductus arteriosus, non-human animal

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


name: isolated anhidrosis with normal sweat glands

description: Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.


congenital herpes virus infection

description: An infectious embryofetopathy caused by infection with Herpesviridae.


testicular regression syndrome, horse

description: Testicular regression syndrome that occurs in horse.


name: central hypoventilation syndrome, congenital


low grade central osteosarcoma

description: A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.


name: disorder of orbital region, non-human animal

description: Disorder of orbital region that occurs in non-human animals.


name: ichthyosis, congenital, autosomal recessive 12

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.


name: diffuse palmoplantar keratoderma - acrocyanosis syndrome

description: Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.


benign neoplasm of ciliary body

description: A benign neoplasm that involves the ciliary body.


name: autosomal recessive spinocerebellar ataxia 2

description: The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.


name: autosomal recessive nonsyndromic hearing loss 66

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.


name: silver-Russell syndrome due to 7p11.2p13 microduplication


ABeta amyloidosis, dutch type

description: Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.


name: retinitis pigmentosa 94, variable age at onset


name: arrhythmogenic right ventricular cardiomyopathy, chimpanzee

description: Arrhythmogenic right ventricular cardiomyopathy that occurs in chimpanzee.


criss-cross heart

description: Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.


spondyloepiphyseal dysplasia tarda

description: Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.


chronic myelomonocytic leukemia, dog

description: Chronic myelomonocytic leukemia that occurs in dog.


name: intellectual disability, autosomal recessive 6

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.


name: short stature due to partial GHR deficiency

description: Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.


fried syndrome

description: A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.


HSD10 disease, neonatal type

description: HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.


familial acanthosis nigricans

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


entropion, goat

description: Entropion that occurs in goat.


coxsackievirus infectious disease

description: A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.


name: cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome


name: ventricular tachycardia, catecholaminergic polymorphic 6


myopathy, golden hamster

description: Myopathy that occurs in golden hamster.


canine acanthomatous epulis

description: A tumor arising from odontogenic epithelium and occurs in a dog.


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.


name: intellectual developmental disorder, autosomal recessive 81


name: familial chronic myelocytic leukemia-like syndrome

description: A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).


name: hypogonadotropic hypogonadism 7 with or without anosmia

description: A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.


name: Niemann-Pick disease type C, juvenile neurologic onset


description: Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.


intertrigo

description: A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.


name: partial duplication of the short arm of chromosome 11


linear lichen planus

description: Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.


name: mesenteric lymphadenitis due to Yersinia infection

description: An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.


epidermolysis bullosa, cattle

description: Epidermolysis bullosa that occurs in cattle.


retinitis pigmentosa 67

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.


name: short stature-pituitary and cerebellar defects-small sella turcica syndrome

description: Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).


GM3 synthase deficiency

description: GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.


name: disorder of iron metabolism and transport


name: Leber hereditary optic neuropathy, cattle

description: Leber hereditary optic neuropathy that occurs in cattle.


name: pigmented nodular adrenocortical disease, primary, 2

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.


name: macrostomia-preauricular tags-external ophthalmoplegia syndrome

description: Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.


name: arrhythmogenic right ventricular cardiomyopathy, dog

description: Arrhythmogenic right ventricular cardiomyopathy that occurs in dog.


name: X-linked intellectual disability with hypopituitarism

description: An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.


schizophrenia 11

description: A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


hydrolethalus syndrome 2

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.


name: intellectual disability, autosomal dominant 27


name: alopecia universalis onychodystrophy vitiligo

description: A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.


choroidal sclerosis

description: A neurodegenerative disease that involves the optic choroid.


intellectual disability, X-linked 46

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.


hereditary dementia

description: An instance of dementia that is caused by an inherited genomic modification in an individual.


paraurethral gland neoplasm

description: A neoplasm (disease) that involves the paraurethral gland.


Niemann-Pick disease type E

description: Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.


name: ciliary dyskinesia, primary, 47, and lissencephaly


gingival hypertrophy, red fox

description: Gingival hypertrophy that occurs in red fox.


congenital myasthenic syndrome 14

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.


Budd-chiari syndrome, domestic cat

description: Budd-Chiari syndrome that occurs in domestic cat.


distal trisomy 22q

description: Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.


episodic ataxia type 4

description: Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.


ABetaA21G amyloidosis

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.


retinitis pigmentosa 34

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.


platelet-type bleeding disorder 15

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.


description: Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.


microphthalmia-brain atrophy syndrome

description: Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.


tetralogy of fallot, non-human animal

description: Tetralogy of fallot that occurs in non-human animals.


Behcet syndrome arthropathy

description: Arthropathy resulting from Behcet's syndrome.


name: uveal coloboma-cleft lip and palate-intellectual disability

description: Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.


camptodactyly-taurinuria syndrome

description: Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.


X-linked disease

description: X-linked form of disease.


exostoses, multiple, type 1

description: Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.


postoperative ventricular dysfunction

description: Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.


Huntington disease-like 3

description: Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.


16p11.2p12.2 microduplication syndrome

description: 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.


name: cortical dysplasia, complex, with other brain malformations 9


name: refractory precursor T-lymphoblastic lymphoma/leukemia

description: T-lymphoblastic leukemia/lymphoma resistant to treatment


name: connective tissue disorder, non-human animal

description: Connective tissue disorder that occurs in non-human animals.


epiphyseal dysplasia, multiple, 2

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.


name: spondyloepiphyseal dysplasia with metatarsal shortening

description: A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.


Aicardi-Goutieres syndrome 9

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.


non-specific granulomatous orchitis

description: Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.


description: 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.


balloon cell malignant melanoma

description: A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.


name: MAN1B1-congenital disorder of glycosylation

description: MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).


campomelia, Cumming type

description: Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.


cryptorchidism, non-human animal

description: Cryptorchidism that occurs in non-human animals.


name: developmental and epileptic encephalopathy 97


name: primary immunodeficiency due to calcium channel deficiency

description: An immunodeficiency disease caused by a variation in the CRACR2A gene.


myopia 25, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.


name: spinocerebellar ataxia, autosomal recessive 33


name: anhidrosis, familial generalized, with abnormal or absent sweat glands


maxillary neoplasm

description: Cancer or tumors of the maxilla or upper jaw.


Alsing syndrome

description: An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.


situs inversus, non-human animal

description: Situs inversus that occurs in non-human animals.


name: autosomal dominant nonsyndromic hearing loss 11

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


name: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

description: A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.


occupational disorder

description: Any disorder that is realized in response to an exposure to occupation.


name: partial duplication of the long arm of chromosome 2

description: Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: mitochondrial complex 1 deficiency, nuclear type 6


rippling muscle disease

description: A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch


name: epidermolysis bullosa simplex 1C, localized

description: A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.


name: thyroid hormone resistance, generalized, autosomal dominant


name: ALG9-associated autosomal dominant polycystic kidney disease

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.


ureteric orifice cancer

description: A malignant neoplasm involving the ureteral orifice.


Patterson-Stevenson-Fontaine syndrome

description: Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.


name: rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies


leukorrhea

description: Whitish or yellowish mucosal vaginal discharge.


description: Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.


name: absent radius-anogenital anomalies syndrome

description: Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.


atrioventricular node disorder

description: A disease involving the atrioventricular node.


name: pseudoleprechaunism syndrome, Patterson type

description: Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.


desmoplastic nevus

description: A benign melanocytic nevus characterized by the presence of desmoplastic stroma.


TRPM1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.


synostosis

description: A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.


name: spinal muscular atrophy, non-human animal

description: Spinal muscular atrophy that occurs in non-human animals.


testicular fibrothecoma

description: A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.


name: muscular dystrophy-white matter spongiosis syndrome


xeroderma pigmentosum variant type

description: Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.


name: hypothyroidism, congenital, nongoitrous, 9


osteoarthritis, toe

description: Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.


name: Kleefstra syndrome due to 9q34 microdeletion


congenital myopathy, non-human animal

description: Congenital myopathy that occurs in non-human animals.


ischio-vertebral syndrome

description: Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.


early-onset familial hypoaldosteronism

description: A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.


name: complex cortical dysplasia with other brain malformations 4

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.


metatropic dysplasia

description: Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.


name: autosomal dominant nonsyndromic hearing loss 48

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.


name: mucopolysaccharidosis type 2, severe form

description: Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.


name: generalized dominant dystrophic epidermolysis bullosa

description: Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.


hyperaldosteronism, non-human animal

description: Hyperaldosteronism that occurs in non-human animals.


horse transitional cell carcinoma

description: Transitional cell carcinoma that occurs in a horse.


name: ALG2-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.


GAPO syndrome, pig

description: GAPO syndrome that occurs in pig.


name: spondyloepimetaphyseal dysplasia, Irapa type

description: A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.


acute myeloid leukemia, t(8;16)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)


vitelliform macular dystrophy 5

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.


reticuloendotheliosis, avian

description: A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant.


Batten-Turner congenital myopathy

description: A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.


name: intellectual developmental disorder, autosomal recessive 70


non-human primate disease

description: Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini.


setariasis

description: Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.


partial sensory epilepsy

description: A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).


name: hypertrophic cardiomyopathy, non-human animal

description: Hypertrophic cardiomyopathy that occurs in non-human animals.


name: intellectual developmental disorder, autosomal dominant 64


conventional fibrosarcoma

description: A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.


autosomal recessive amelia

description: Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.


ataxia - oculomotor apraxia type 4

description: Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.


hypophosphatasia, dog

description: Hypophosphatasia that occurs in dog.


name: combined deficiency of factor V and factor VIII

description: Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.


name: intellectual disability, autosomal dominant 42

description: Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.


name: generalized epilepsy with febrile seizures plus, type 2

description: Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.


name: neurodegeneration, childhood-onset, with progressive microcephaly


name: developmental and epileptic encephalopathy 89


name: aniridia-renal agenesis-psychomotor retardation syndrome

description: Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.


name: idiopathic macular telangiectasia type 3

description: A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.


name: juvenile amyotrophic lateral sclerosis with dementia

description: A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.


name: peroxisome biogenesis disorder 7A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


cataract 12 multiple types

description: A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.


immunodeficiency-related disorder

description: A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.


name: non-specific autoimmune supratentorial encephalitis without characteristic antibodies


acute myeloid leukemia, Trisomy 8

description: Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)


torsion dystonia 13

description: DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.


myocardial stunning

description: Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.


acute endometritis

description: An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.


name: paraneoplastic isolated brainstem encephalitis


name: acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive

description: Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)


Charcot-Marie-Tooth disease type 5

description: Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.


name: acute myeloid leukemia, t(9;22)(q34.1;q11.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)


polydactyly, goat

description: Polydactyly that occurs in goat.


name: adult-onset foveomacular vitelliform dystrophy

description: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

description: Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


name: microcephaly with intellectual disability

description: Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.


pili torti-onychodysplasia syndrome

description: Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.


trisomy 18p

description: Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.


benign neoplasm of scrotum

description: A benign neoplasm that involves the scrotum.


priapism, domestic cat

description: Priapism that occurs in domestic cat.


Joubert syndrome 21

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.


name: KAT6B-related multiple congenital anomalies syndrome


name: Ehlers-Danlos syndrome, autosomal dominant, type unspecified


TUBB4A-related neurologic disorder

description: Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.


amyotrophic lateral sclerosis type 19

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.


myeloperoxidase deficiency, dog

description: Myeloperoxidase deficiency that occurs in dog.


name: inflammatory poikiloderma with hair abnormalities and acral keratoses


episodic ataxia type 7

description: Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.


name: iatrogenic or traumatic pituitary deficiency


description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.


EZB-MYC- diffuse large B-cell lymphoma

description: An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.


hypotrichosis 12

description: Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.


name: developmental and epileptic encephalopathy 94

description: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.


myotubular myopathy 1, domestic cat

description: Myotubular myopathy 1 that occurs in domestic cat.


name: combined oxidative phosphorylation defect type 27

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


nemaline myopathy 5

description: Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.


nail infection

description: An infectious process affecting the nail.


orofaciodigital syndrome IV

description: Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


trigonocephaly-broad thumbs syndrome

description: Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.


name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


chronic inducible urticaria

description: A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.


restrictive dermopathy 1

description: A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.


nanophthalmia

description: Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.


Cowden syndrome 3

description: Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.


monosomy 9q22.3

description: Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.


dentinogenesis imperfecta type 3

description: Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).


peritonsillar abscess

description: An abscess that develops in the space surrounding one or both palatine tonsils.


primary ciliary dyskinesia 9

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


description: X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.


name: nutritional deficiency disease, non-human animal


spinocerebellar ataxia type 25

description: Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.


name: retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


la Crosse encephalitis

description: La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.


name: intellectual disability, autosomal recessive 2

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


dysautonomia, llama

description: Dysautonomia that occurs in llama.


Whitewater Arroyo hemorrhagic fever

description: A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.


distal monosomy 9p

description: Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.


name: short-rib thoracic dysplasia 14 with polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


cone-rod dystrophy 12

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.


Joubert syndrome 2

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


inborn disorder of histidine metabolism

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


cataract 36

description: Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.


histiocytic and dendritic cell neoplasm

description: Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)


name: short-rib thoracic dysplasia 7/20 with polydactyly, digenic


AIDS phobia

description: An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.


name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


name: LIPE-related familial partial lipodystrophy


name: congenital hereditary facial paralysis-variable hearing loss syndrome

description: Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.


name: rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


early-onset Lafora body disease

description: Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


name: acute myeloid leukemia, t(1;11)(q21;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)


thelaziasis

description: A disease caused by infection with Thelazia.


2q24 microdeletion syndrome

description: 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


name: benign familial neonatal-infantile seizures 1


femoral cancer

description: A cancer involving a femur.


botulism

description: A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.


hereditary spastic paraplegia 47

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.


pelvis syndrome

description: PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.


chromosome 3q13.31 deletion syndrome

description: 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.


name: MELAS syndrome caused by mutation in MTTC

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.