name: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

description: A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.


microcephaly, sheep

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

description: Microcephaly that occurs in sheep.


fallopian tube endometriosis

description: Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.


familial isolated trichomegaly

description: Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.


Donnai-Barrow syndrome

description: Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.


myocardial rupture

description: Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).


name: glycosylphosphatidylinositol biosynthesis defect 18


epithelial recurrent erosion dystrophy

description: Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.


cleft palate, domestic cat

description: Cleft palate that occurs in domestic cat.


description: An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.


tibial hemimelia, non-human animal

description: Tibial hemimelia that occurs in non-human animals.


cluster headache, familial

description: An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.


radial hemimelia, domestic cat

description: Radial hemimelia that occurs in domestic cat.


name: microcephalic osteodysplastic primordial dwarfism types I and III

description: Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.


name: leukemia, chronic lymphocytic, susceptibility to, 4


submandibular adenitis

description: Inflammation of the submandibular lymph nodes.


rhabdomyolysis-myalgia syndrome

description: A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.


name: multiple system atrophy, parkinsonian type

description: Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).


COACH syndrome

description: A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.


polydactyly-syndactyly-triphalangism

description: Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.


name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

description: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.


name: neurodevelopmental disorder with seizures and speech and walking impairment


benign neoplasm of tongue

description: A benign neoplasm that involves the tongue.


name: spondylocostal dysostosis 4, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.


name: microcephalic osteodysplastic primordial dwarfism type I

description: A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.


name: brainstem intraparenchymal clear cell meningioma

description: A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.


hypophosphatasia, non-human animal

description: Hypophosphatasia that occurs in non-human animals.


supraglottis cancer

description: A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.


Joubert syndrome 5

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.


rete testis neoplasm

description: A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.


idiopathic congenital hypothyroidism

description: Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.


ACD-related long telomere syndrome

description: A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.


name: multiple acyl-CoA dehydrogenase deficiency, domestic cat

description: Multiple acyl-coa dehydrogenase deficiency that occurs in domestic cat.


Meier-Gorlin syndrome 1

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.


name: progressive supranuclear palsy-parkinsonism syndrome

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


name: severe early-childhood-onset retinal dystrophy

description: Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.


name: syndromic X-linked intellectual disability Najm type

description: Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.


lumbosacral plexus lesion

description: A nerve plexus disease that involves the lumbosacral nerve plexus.


name: familial cold autoinflammatory syndrome 1

description: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.


name: encephalopathy due to mitochondrial and peroxisomal fission defect


delta-beta-thalassemia

description: Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.


name: skin appendage disorder, non-human animal

description: Skin appendage disorder that occurs in non-human animals.


low anorectal malformation

description: Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.


triglyceride storage disease

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


isolated filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.


name: hypothalamic hamartomas with gelastic seizures

description: A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.


name: MELAS syndrome caused by mutation in MTTK

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


epidermolysis bullosa, non-human animal

description: Epidermolysis bullosa that occurs in non-human animals.


spinocerebellar ataxia type 8

description: Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.


name: olivopontocerebellar atrophy, domestic cat

description: Olivopontocerebellar atrophy that occurs in domestic cat.


name: X-linked intellectual disability, Golabi-Ito-hall type

description: Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.


frontometaphyseal dysplasia 1

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.


methimazole embryofetopathy

description: Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.


malignant neoplasm of acoustic nerve

description: A malignant neoplasm involving the vestibulocochlear nerve.


name: exocrine pancreatic insufficiency, non-human animal

description: Exocrine pancreatic insufficiency that occurs in non-human animals.


name: mitochondrial DNA depletion syndrome 16 (hepatic type)


dilated cardiomyopathy, turkey

description: Dilated cardiomyopathy that occurs in turkey.


AA amyloidosis, red fox

description: AA amyloidosis that occurs in red fox.


name: hypercholesterolemia, autosomal dominant, type B

description: An autosomal dominant condition caused by mutation(s) in the APOB gene, encoding apolipoprotein B-100. It is characterized by hypercholesterolemia and abnormal low-density lipoproteins.


alkaptonuria, domestic cat

description: Alkaptonuria that occurs in domestic cat.


name: hereditary site-specific ovarian cancer syndrome

description: Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.


name: severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome


Waardenburg syndrome type 2D

description: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.


conduction system disorder

description: A disease involving the conducting system of heart.


name: classic complement early component deficiency

description: A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.


discrete papular lichen myxedematosus

description: Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.


pontocerebellar hypoplasia type 8

description: A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.


Moraxellaceae infectious disease

description: Infections with bacteria of the family moraxellaceae.


familial primary hyperparathyroidism

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


name: intellectual disability, autosomal dominant 5

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.


name: kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome


name: developmental and epileptic encephalopathy 96


amaurosis-hypertrichosis syndrome

description: Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.


Kleefstra syndrome 1

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.


brachydactyly-long thumb syndrome

description: Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.


pituitary gland infarction

description: Ischemic necrosis of the pituitary gland.


spermatogenic failure 14

description: Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.


name: facial dysmorphism-shawl scrotum-joint laxity syndrome

description: Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.


name: ventricular septal defect, non-human animal

description: Ventricular septal defect that occurs in non-human animals.


name: cerebral palsy, ataxic, autosomal recessive


primary ciliary dyskinesia 29

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


epilepsy, horse

description: Epilepsy that occurs in horse.


benign neoplasm of glottis

description: A benign neoplasm that involves the glottis.


Fanconi anemia complementation group V

description: Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.


name: neurodevelopmental disorder with microcephaly, hypotonia, and absent language


Salla disease

description: Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.


name: Hennekam lymphangiectasia-lymphedema syndrome 2

description: Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.


AA amyloidosis, northern tree shrew

description: AA amyloidosis that occurs in northern tree shrew.


name: neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

description: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.


plasma protein metabolism disease

description: An inherited metabolic disorder that involves plasma protein metabolism malfunction.


dystonia 25

description: Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.


name: glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form


name: right inferior vena cava connecting to left-sided atrium


intellectual disability, X-linked 58

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.


name: malignant histiocytosis, non-human animal

description: Malignant histiocytosis that occurs in non-human animals.


Caliciviridae infectious disease

description: Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.


name: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.


amyloidosis bronchopulmonary

description: Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.


cervix disorder

description: A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.


amyotrophic lateral sclerosis type 23

description: An autosomal dominant subtype of amyotrophic lateral sclerosis caused by mutation(s) in the ANXA11 gene, encoding annexin A11.


name: chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant


name: spondyloepimetaphyseal dysplasia, Genevieve type

description: A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.


name: digitotalar dysmorphism; ulnar drift, hereditary


Coats plus syndrome

description: Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.


name: congenital hypothyroidism due to maternal intake of antithyroid drugs


hepatitis, viral, animal

description: Inflammation of the liver in animals due to viral infection.


distal myopathy, Welander type

description: Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.


name: spondylometaphyseal dysplasia, Kozlowski type

description: Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.


suppurative thyroiditis

description: Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.


name: indeterminate sex and/or pseudohermaphroditism


retinitis pigmentosa 25

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


name: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

description: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.


name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia


spinocerebellar ataxia type 23

description: Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.


tinea manuum

description: A dermatophytosis that involves the hands.


syringoma

description: A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.


pulmonary hypertension, primary, 1

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.


severe Canavan disease

description: Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.


premature ovarian failure 2B

description: Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.


name: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive


triploidy, tench

description: Triploidy that occurs in tench.


name: hereditary sclerosing poikiloderma with tendon and pulmonary involvement

description: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.


name: neuronopathy, distal hereditary motor, type 2A

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.


name: spondylometaphyseal dysplasia, pagnamenta type


name: dermatophytosis of groin and perianal area

description: Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.


name: partial duplication of the short arm of chromosome 1


name: dyskeratosis congenita and related telomere biology disorder

description: A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.


Charcot-Marie-Tooth disease type 4B3

description: Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).


conventional lipoma

description: A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.


Karsch-Neugebauer syndrome

description: Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.


name: intellectual disability, autosomal recessive 1

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.


name: polyposis, intestinal, scattered and discrete


cone-rod dystrophy 19

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.


name: autosomal dominant nonsyndromic hearing loss 47

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.


Kapur-Toriello syndrome

description: Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.


drug-induced localized lipodystrophy

description: Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.


hereditary spastic paraplegia 49

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.


BRCA1-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described.


name: bilateral parasagittal parieto-occipital polymicrogyria


acrocephalopolydactyly

description: Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.


name: acute myeloid leukemia, KRAS gene mutation

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


description: Myeloid leukemia characterized by the presence of Philadelphia chromosome.


sclerosing liposarcoma

description: A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.


name: malignant Sertoli-Leydig cell tumor of ovary

description: Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.


metaphyseal acroscyphodysplasia

description: Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.


description: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 1


bladder trigone cancer

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


aortic arch defects

description: Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.


name: osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

description: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.


visual epilepsy

description: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'


pyloric stenosis, non-human animal

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


sclerosteosis

description: Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.


glioma susceptibility 2

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


name: congenital pulmonary venous return anomaly

description: Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.


craniosynostosis, Philadelphia type

description: Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.


name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia


exogenous ochronosis

description: Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.


name: autosomal recessive spastic paraplegia type 70

description: Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.


MAN2B2 deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.


Char syndrome

description: Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.


osteochondrosis, domestic cat

description: Osteochondrosis that occurs in domestic cat.


megacolon, cattle

description: Megacolon that occurs in cattle.


name: hereditary inclusion body myopathy type 4

description: Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.


rat-bite fever

description: An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.


hyperthyroidism, horse

description: Hyperthyroidism that occurs in horse.


adult liposarcoma

description: A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


age related macular degeneration 14

description: An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.


N syndrome

description: N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity.


name: contractures-developmental delay-Pierre Robin syndrome


name: intellectual disability-obesity-prognathism-eye and skin anomalies syndrome


name: port-wine nevi-mega cisterna magna-hydrocephalus syndrome

description: A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.


familial polycythemia

description: Polycythemia that occurs in groups of related individuals.


distal 16p11.2 microdeletion syndrome

description: Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.


name: intellectual developmental disorder, X-linked, syndromic, Pilorge type


spinocerebellar ataxia type 40

description: Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.


name: craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

description: Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.


leukoplakia of gingiva

description: A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.


description: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.


lower clivus meningioma

description: A meningioma that affects the lower clivus.


name: autosomal dominant nonsyndromic hearing loss 56

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


name: congenital myasthenic syndrome with tubular aggregates

description: A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.


anti-NMDA receptor encephalitis

description: An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.


name: lethal omphalocele-cleft palate syndrome

description: Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.


achromatopsia 7

description: Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.


hearing loss, autosomal recessive

description: Autosomal recessive form of nonsyndromic deafness.


name: autosomal recessive nonsyndromic hearing loss 30

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.


name: autoimmune lymphoproliferative syndrome, domestic cat

description: Autoimmune lymphoproliferative syndrome that occurs in domestic cat.


name: hypoparathyroidism, familial isolated, 2


pyoderma, dog

description: Pyoderma that occurs in dog.


Lowry-MacLean syndrome

description: Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.


progressive myoclonic epilepsy type 3

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.


ciliary body cancer

description: A malignant neoplasm involving the ciliary body.


name: lip herpes simplex type 2 infectious disorder

description: Any herpes simplex type 2 infectious disease that involves the lip.


hereditary narcolepsy

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


description: X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.


nanophthalmos 2

description: Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.


name: disseminated intravascular coagulation in newborn

description: A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.


name: dysmorphism-short stature-deafness-disorder of sex development syndrome

description: Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.


mesenteric vascular occlusion

description: Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)


name: hyperphagia leading to hepatic steatosis, non-human animal

description: Hyperphagia leading to hepatic steatosis that occurs in non-human animals.


name: mitochondrial complex 2 deficiency, nuclear type 4


mixed germ cell-sex cord-stromal tumor

description: A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.


X-linked corneal dermoid

description: X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.


name: susceptibility to familial cutaneous melanoma

description: A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.


lysosomal storage disease, emu

description: Lysosomal storage disease that occurs in emu.


MYH7-related skeletal myopathy

description: Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.


osteochondrosis, raccoon dog

description: Osteochondrosis that occurs in raccoon dog.


orgasm disorder

description: A change in the ability to obtain orgasm or in the quality of the orgasmic sensation.


name: mitochondrial DNA depletion syndrome, myopathic form

description: Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.


von Willebrand disease type 2A

description: Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.


osteoarthritis, domestic guinea pig

description: Osteoarthritis that occurs in domestic guinea pig.


skull disorder

description: A non-neoplastic or neoplastic disorder that affects structures of the skull.


acquired deficiency anemia

description: An instance of deficiency anemia that is acquired during the lifetime of the individual.


keratomalacia

description: An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.


glycogen storage disease IXa2

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.


name: developmental and epileptic encephalopathy, 67


congenital nervous system disorder

description: An abnormality of the nervous system that is present at birth or detected in the neonatal period.


name: prelingual non-syndromic genetic hearing loss

description: A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.


pachyonychia congenita 3

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.


name: fallot complex-intellectual disability-growth delay syndrome

description: Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.


name: erythrokeratodermia variabilis et progressiva 2


benign secondary hypertension

description: Mild to moderate high blood pressure that is caused by an underlying medical condition.


name: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

description: A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).


iatrogenic botulism

description: Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.


name: fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.


retinitis pigmentosa 19

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.


name: autosomal dominant nonsyndromic hearing loss 2B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.


oculoglandular tularemia

description: A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.


name: melanoma, cutaneous malignant, susceptibility to, 8

description: An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.


familial hypertryptophanemia

description: Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.


name: pyruvate dehydrogenase deficiency, non-human animal

description: Pyruvate dehydrogenase deficiency that occurs in non-human animals.


name: obesity due to prohormone convertase I deficiency

description: Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.


Hinman syndrome

description: Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.


central core myopathy, non-human animal

description: Central core myopathy that occurs in non-human animals.


craniosynostosis, non-human animal

description: Craniosynostosis that occurs in non-human animals.


benign neoplasm of hypopharynx

description: A benign neoplasm that involves the hypopharynx.


abducens nerve neoplasm

description: A neoplasm involving a abducens nerve.


name: developmental and epileptic encephalopathy 102


acute myeloid leukemia, del(5q31-q32)

description: Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)


name: GJC2-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.


hemophilia B, horse

description: Hemophilia B that occurs in horse.


name: feline acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv).


Neu-Laxova syndrome 2

description: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.


neoplasm of femur

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


blastema predominant kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the predominance of the blastema component.


name: factor V short isoforms-related bleeding disorder


name: MELAS syndrome caused by mutation in MTND6

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.


spermatogenic failure 4

description: Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.


peripheral neuropathy, dog

description: Peripheral neuropathy that occurs in dog.


name: acute myeloid leukemia, inv(16)(p13.1;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


name: neurodevelopmental disorder with seizures and brain atrophy


name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome


ectodermal dysplasia-blindness syndrome

description: Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.


description: Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.


familial isolated congenital asplenia

description: Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.


name: epileptic encephalopathy, infantile or early childhood, 3


name: partial deletion of the short arm of chromosome 6


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 8


congenital myasthenic syndrome 18

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.


Charcot-Marie-Tooth disease type 2I

description: Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.


name: congenital disorder of glycosylation with defective fucosylation 2


name: epidermolysis bullosa simplex 1B, generalized intermediate

description: Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.


pancreatic cancer, susceptibility to, 4

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.


retroperitoneal neoplasm

description: A benign or malignant neoplasm that affects the retroperitoneum.


X-linked intellectual disability

description: An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.


name: cysts and fistulae of the face and oral cavity


name: facioscapulohumeral muscular dystrophy 3, digenic


strabismus, non-human animal

description: Strabismus that occurs in non-human animals.


atrial fibrillation, familial, 9

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.


name: EPHB4-related lymphatic-related hydrops fetalis

description: A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.


name: benign connective and soft tissue neoplasm

description: A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.


primary unilateral adrenal hyperplasia

description: Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.


name: mixed phenotype acute leukemia with MLL rearranged

description: An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.


autosomal recessive ataxia, Beauce type

description: A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.


name: classic paraneoplastic limbic encephalitis

description: Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.


dacryocystitis, rabbit

description: Dacryocystitis that occurs in rabbit.


autosomal recessive cerebellar ataxia

description: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.


name: intellectual developmental disorder, autosomal recessive 73


nephronophthisis 20

description: Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.


Bardet-Biedl syndrome 19

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.


name: severe combined immunodeficiency due to IKK2 deficiency

description: Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.


name: developmental and epileptic encephalopathy, 1

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


X-linked cerebral adrenoleukodystrophy

description: A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.


endocervicitis

description: Inflammation of the endocervix.


name: hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation


atrial septal defect, non-human animal

description: Atrial septal defect that occurs in non-human animals.


median cleft lip/mandibule

description: Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.


intracranial liposarcoma

description: A malignant adipose tissue neoplasm of the intracranial region.


name: partial duplication of the short arm of chromosome 19


name: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

description: A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.


name: twin reversal arterial perfusion syndrome


name: thrombophilia due to protein S deficiency, autosomal recessive


entropion, rabbit

description: Entropion that occurs in rabbit.


name: telangiectasia, hereditary hemorrhagic, type 2

description: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.


name: distal hereditary motor neuropathy type 7

description: Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.


name: tibia, hypoplasia or aplasia of, with polydactyly

description: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.


name: neuropathy, hereditary sensory and autonomic, type 2A

description: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13


pemphigus, dog

description: Pemphigus that occurs in dog.


name: frontotemporal dementia, right temporal atrophy variant

description: Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.


choroidal atrophy-alopecia syndrome

description: Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.


osteochondrosis, cattle

description: Osteochondrosis that occurs in cattle.


congenital nystagmus, dog

description: Congenital nystagmus that occurs in dog.


visceral botryomycosis

description: A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.


pediatric myxoid chondrosarcoma

description: A myxoid chondrosarcoma occurring in children.


urachal diverticulum

description: Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.


name: familial atypical multiple mole melanoma syndrome


osteoarthritis, cattle

description: Osteoarthritis that occurs in cattle.


name: hereditary sensorimotor neuropathy with hyperelastic skin


name: Leber-like hereditary optic neuropathy, autosomal recessive 1


food dermatitis

description: Dermatitis caused by an allergic reaction to ingested food.


oculomaxillofacial dysostosis

description: Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.


name: hypogonadotropic hypogonadism 10 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.


ventricular septal defect, cattle

description: Ventricular septal defect that occurs in cattle.


name: qualitative or quantitative defects of delta-sarcoglycan


name: autosomal dominant nonsyndromic hearing loss 54

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.


ectasia of the right atrial appendage

description: Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.


name: isolated asymptomatic elevation of creatine phosphokinase

description: Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.


name: acute myeloid leukemia, loss of chromosome 17p

description: Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)


Aase-Smith syndrome

description: Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.


CERKL-related retinopathy

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


adult Krabbe disease

description: A Krabbe disease that occurs in an adult.


name: infection due to clostridium perfringens


epilepsy, progressive myoclonic, 1B

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.


chromosome 15q24 deletion syndrome

description: 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.


name: pauci-immune glomerulonephritis with ANCA

description: Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.


ulnar hypoplasia-split foot syndrome

description: Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.


name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

description: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).


Indian tick typhus

description: An infectious disease caused by infection with rickettsia conorii subsp. coronorii.


name: intellectual disability, autosomal recessive 24


name: Prader-Willi syndrome due to translocation


non-secreting paraganglioma

description: Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.


polycystic kidney disease 4

description: A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.


name: hypogonadotropic hypogonadism 3 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.


platelet storage pool deficiency

description: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.


musculoskeletal system disorder

description: A disease involving the musculoskeletal system.


autoinflammatory disease, X-linked

description: An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.


perceptual disorders, non-human animal

description: Perceptual disorders that occurs in non-human animals.


hydatidiform mole, recurrent, 1

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.


tuberculous empyema

description: An empyema resulting from infection by Mycobacterium tuberculosis.


name: congenital absence of thigh and lower leg with foot present, unilateral


name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome

description: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.


name: congenital amegakaryocytic thrombocytopenia 1

description: A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.


name: severe neurodegenerative syndrome with lipodystrophy


name: shoulder and thorax deformity-congenital heart disease syndrome


feline fibrosarcoma

description: Fibrosarcoma that occurs in a cat.


vaginal disorder

description: A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.


name: autosomal recessive nonsyndromic hearing loss 44

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.


microphthalmia, chicken

description: Microphthalmia that occurs in chicken.


vaginal germ cell malignant tumor

description: A malignant germ cell tumor that involves the vagina.


pinta disease

description: An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.


name: intellectual disability-early-onset cataract-microcephaly syndrome


benign neoplasm of buccal mucosa

description: A benign neoplasm that involves the buccal mucosa.


scrotum melanoma

description: A melanoma (disease) that involves the scrotum.


laryngeal tuberculosis

description: Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.


heel spur

description: A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.


X-linked Opitz G/BBB syndrome

description: X-linked form of Opitz G/BBB syndrome.


LTBP2-related ocular dysgenesis

description: Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.


caudal appendage-deafness syndrome

description: Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.


name: spastic paraplegia 89, autosomal recessive


name: myopathy due to myoadenylate deaminase deficiency

description: An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.


spina bifida, dog

description: Spina bifida that occurs in dog.


ADAM9-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.


name: MELAS syndrome caused by mutation in MTTH

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


chicken bursal lymphoma

description: A malignant lymphoma that arises in the bursa of Fabricius in a chicken.


patent urachus, dog

description: Patent urachus that occurs in dog.


name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome


spinocerebellar ataxia type 32

description: Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.


Charcot-Marie-Tooth disease type 4H

description: Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy


name: epilepsy, familial focal, with variable foci 1

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.


atrophic rhinitis, cattle

description: Atrophic rhinitis that occurs in cattle.


name: autosomal dominant nonsyndromic hearing loss 31

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.


name: autosomal recessive nonsyndromic hearing loss 79

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


name: familial recurrent peripheral facial palsy


intermediate malignant teratoma

description: An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.


cardiomyopathy, cattle

description: Cardiomyopathy that occurs in cattle.


name: chondrodysplasia situs inversus imperforate anus polydactyly


polymicrogyria, non-human animal

description: Polymicrogyria that occurs in non-human animals.


retinoschisis, non-human animal

description: Retinoschisis that occurs in non-human animals.


name: paternal uniparental disomy of chromosome 6

description: Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy


tibialis tendinitis

description: A tendinitis that involves the tibialis.


name: hypophosphatemic rickets, X-linked recessive

description: Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.


neoplasm of aortic body

description: A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.


chromosome 11 disorder

description: Chromosomal disorder in which chromosome 11 is affected.


congenital myopathy, goat

description: Congenital myopathy that occurs in goat.


syndromic microphthalmia type 5

description: Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.


echinostomiasis

description: Infection by flukes of the genus Echinostoma.


name: congenital disorder of glycosylation with defective fucosylation 1


inborn vitamin metabolic disorder

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


name: autosomal recessive spastic paraplegia type 71


commensal bacterial infectious disease

description: A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.


diabetes insipidus, non-human animal

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


name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


name: multiple epiphyseal dysplasia, Lowry type

description: Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.


name: chromosome 19q13.11 deletion syndrome, proximal

description: Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.


polydactyly, springbok

description: Polydactyly that occurs in springbok.


name: catecholaminergic polymorphic ventricular tachycardia 2

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.


name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone

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


name: microcephaly with simplified gyral pattern


name: acute myeloid leukemia, t(7;12)(q36;p13)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)


description: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.


name: neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects


name: immunodeficiency due to a classical component pathway complement deficiency


urolithiasis, Silvery lutung

description: Urolithiasis that occurs in Silvery lutung.


paratenonitis

description: Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.


chromosome 14 disorder

description: Chromosomal disorder in which chromosome 14 is affected.


ablepharon macrostomia syndrome

description: Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.


name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

description: Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.


peroxisomal acyl-CoA oxidase deficiency

description: Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.


ascaridiasis

description: Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.


dentin caries

description: A dental caries that involves the dentine.


polycystic kidney disease, rabbit

description: Polycystic kidney disease that occurs in rabbit.


name: microcephaly 2, primary, autosomal recessive, with or without cortical malformations


name: systemic lupus erythematosus, domestic cat

description: Systemic lupus erythematosus that occurs in domestic cat.


chondroid lipoma

description: A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.


oculomotor nerve cancer

description: A cancer involving a oculomotor nerve.


muscular dystrophy, American mink

description: Muscular dystrophy that occurs in American mink.


hyperphosphatemia, cattle

description: Hyperphosphatemia that occurs in cattle.


bilateral frontal polymicrogyria

description: Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.


name: COQ7-related distal hereditary motor neuropathy


polydactyly, alpaca

description: Polydactyly that occurs in alpaca.


erythropoietin polycythemia

description: Polycythemia that is caused by excess erythropoietin.


name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal

description: Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals.


name: symphalangism with multiple anomalies of hands and feet

description: Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.


fundus pulverulentus

description: Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.


kidney cortex disease

description: A kidney disease that is located in the kidney cortex.


name: torsade-de-pointes syndrome with short coupling interval

description: Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.


distal trisomy 7p

description: Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.


description: Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.


subacute lymphocytic thyroiditis

description: Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.