name: neuropathy, hereditary motor and sensory, type 6A

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.


name: hypotonia with lactic acidemia and hyperammonemia

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

description: This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.


name: pseudohypoaldosteronism, type IB3, autosomal recessive


name: tricho-dento-osseous-like syndrome, non-human animal

description: Tricho-dento-osseous-like syndrome that occurs in non-human animals.


crossed polysyndactyly

description: Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.


Charcot-Marie-Tooth disease type 4B2

description: Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.


name: alveolar capillary dysplasia without misalignment of pulmonary veins

description: A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.


name: mitochondrial complex I deficiency, nuclear type


oculoosteocutaneous syndrome

description: A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.


myotonic cataract

description: A cataract occurring as a sequela of myotonic dystrophy.


name: autosomal recessive spinocerebellar ataxia 17

description: Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


Alexander disease type I

description: Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.


Moyamoya disease 2

description: Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.


name: partial monosomy of the short arm of chromosome 20


name: intellectual disability, autosomal dominant 30

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.


cervical adenosarcoma

description: A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


name: autosomal recessive inherited pseudoxanthoma elasticum

description: An autosomal recessive form of PXE.


Yersinia infectious disease

description: Infections with bacteria of the genus yersinia.


sympathetic nervous system disorder

description: A disease or disorder that involves the sympathetic nervous system.


name: combined oxidative phosphorylation deficiency 29

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


name: autosomal recessive proximal renal tubular acidosis

description: Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


leukodystrophy, dog

description: Leukodystrophy that occurs in dog.


intersphincteric abscess

description: An abscess contained between the internal and external anal sphincters.


name: osteosclerosis-ichthyosis-premature ovarian failure syndrome

description: This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.


Ullrich congenital muscular dystrophy 2

description: Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


name: lethal arthrogryposis-anterior horn cell disease syndrome


cataract 28

description: A cataract that has material basis in variation in the region 6p12-q12.


name: GRID2-related autosomal dominant spinocerebellar ataxia


name: mitochondrial complex 1 deficiency, nuclear type 19


myotonia congenita, autosomal recessive

description: Autosomal recessive form of myotonia congenita.


name: neurodegeneration with brain iron accumulation 6

description: COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.


secondary polyarteritis nodosa

description: Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).


retinitis pigmentosa 29

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.


epididymis cancer

description: A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.


name: hereditary acrokeratotic poikiloderma, Weary type


name: PNPLA6-related spastic paraplegia with or without ataxia

description: An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.


name: cardiac anomalies - developmental delay - facial dysmorphism syndrome


pemphigus, goat

description: Pemphigus that occurs in goat.


name: pyruvate kinase deficiency of erythrocyte, domestic cat

description: Pyruvate kinase deficiency of erythrocyte that occurs in domestic cat.


apperceptive agnosia

description: An agnosia that is a loss of the ability to distinguish visual shapes.


name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


name: camptodactyly syndrome, Guadalajara type 3

description: Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.


name: type I complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.


eyelid cancer

description: A cancer that involves the eyelid.


name: ciliary dyskinesia with transposition of ciliary microtubules


name: spinocerebellar ataxia, autosomal recessive 24

description: Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.


chromosome 20 disorder

description: Chromosomal disorder in which chromosome 20 is affected.


name: human betaherpesvirus 5 infectious disease

description: A disease caused by infection with Human betaherpesvirus 5.


diastematomyelia

description: A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


name: autosomal dominant nonsyndromic hearing loss 21

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.


dilated cardiomyopathy, rabbit

description: Dilated cardiomyopathy that occurs in rabbit.


name: disorder of defective peroxisome oxidative status

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.


name: cholesterol-ester transfer protein deficiency


name: intellectual disability, autosomal dominant 14

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.


endocervical type cervical adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.


name: chromosome 5Q14.3 deletion syndrome, distal


eccrine sweat gland hamartoma

description: A hamartoma characterized by localized eccrine sweat gland malformation.


leukoplakia of penis

description: A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.


hepatic encephalopathy, domestic cat

description: Hepatic encephalopathy that occurs in domestic cat.


name: muscular dystrophy, congenital, with rapid progression


RPE65-related recessive retinopathy

description: A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.


name: persistent left superior vena cava connecting to the left-sided atrium

description: Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.


mouth mucosa disorder, non-human animal

description: Mouth mucosa disorder that occurs in non-human animals.


ovarian dysgenesis 2

description: Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.


name: atypical hemolytic-uremic syndrome with C3 anomaly


tracheal lymphoma

description: A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.


name: skin disease caused by bacterial infection, non-human animal


name: Wiskott-Aldrich syndrome, autosomal dominant form


laryngeal granuloma

description: A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.


name: hyper-IgE recurrent infection syndrome 5, autosomal recessive


name: non-specific autoimmune brainstem encephalitis without characteristic antibodies


name: mitochondrial complex III deficiency nuclear type 3

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


name: epiphyseal dysplasia-hearing loss-dysmorphism syndrome

description: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.


testicular trophoblastic tumor

description: A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.


ASAH1-related disorders

description: The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.


HBA1-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA1 gene.


name: acute myeloid leukemia, KIT exon 17 mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)


acrodermatitis enteropathica, dog

description: Acrodermatitis enteropathica that occurs in dog.


name: spastic paraplegia-glaucoma-intellectual disability syndrome

description: Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.


immune epilepsy

description: Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


name: EBV-positive T-cell lymphoproliferative disorder of childhood

description: An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.


junctional epidermolysis bullosa

description: Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.


Hoyeraal-Hreidarsson syndrome

description: Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.


autosomal recessive omodysplasia

description: Autosomal recessive form of omodysplasia.


microphthalmia with limb anomalies

description: Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.


name: benign angiitis of the central nervous system

description: A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.


name: intellectual disability-myopathy-short stature-endocrine defect syndrome

description: Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.


pachyonychia congenita 2

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.


opportunistic mycosis

description: A mycosis that arises from infection in an immunologically compromised host.


cataract 21 multiple types

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


name: integumentary system disorder, non-human animal

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


name: anemia, congenital dyserythropoietic, type 1a


Cowden syndrome 4

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


Usher syndrome type 3B

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


name: Greig cephalopolysyndactyly-contiguous gene syndrome


name: auditory neuropathy, autosomal dominant 2


lysosomal storage disease, domestic cat

description: Lysosomal storage disease that occurs in domestic cat.


spermatogenic failure 3

description: Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.


myoclonus, horse

description: Myoclonus that occurs in horse.


name: hereditary cryohydrocytosis with reduced stomatin


cerebellar-facial-dental syndrome

description: A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.


name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability


pancreatic cancer, susceptibility to, 2

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.


hyperdibasic aminoaciduria type 1

description: Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


hypertrichosis lanuginosa congenita

description: Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.


peripheral nervous system cancer

description: Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location


hereditary spastic paraplegia 50

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.


name: developmental and epileptic encephalopathy, 44

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2


urachus cancer

description: A malignant neoplasm involving the urachus.


choanal atresia, alpaca

description: Choanal atresia that occurs in alpaca.


name: ectodermal dysplasia-cutaneous syndactyly syndrome


loiasis

description: Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.


name: distal hereditary motor neuropathy type 2


pediatric Castleman disease

description: Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.


ATP6AP2-related disorder

description: Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.


cerebral palsy, spastic quadriplegic, 3

description: Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.


name: neuronopathy, distal hereditary motor, autosomal recessive 5

description: Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.


name: pulmonary hypertension, non-human animal

description: Pulmonary hypertension that occurs in non-human animals.


feline neoplasm

description: Neoplasm that occurs in a cat.


heart-hand syndrome, Slovenian type

description: A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.


asphyxiating thoracic dystrophy 5

description: Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.


name: partial deletion of the short arm of chromosome 11


name: oocyte/zygote/embryo maturation arrest 17


name: disorder of vitamin and non-protein cofactor absorption and transport


autoimmune autonomic ganglionopathy

description: A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.


name: combined oxidative phosphorylation defect type 20

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.


name: hereditary sclerosing poikiloderma, Weary type


name: immunodeficiency 74, COVID-19-related, X-linked


thyroid ectopia

description: Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


epithelioid cell uveal melanoma

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


name: drug- or toxin-induced pulmonary arterial hypertension

description: Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.


name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


name: microcornea-glaucoma-absent frontal sinuses syndrome

description: Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.


name: neuronopathy, distal hereditary motor, autosomal recessive 9


pontocerebellar hypoplasia type 1B

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.


name: Ehlers-Danlos syndrome, Beasley-Cohen type


infancy electroclinical syndrome

description: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.


name: partial deletion of the long arm of chromosome 19


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.


description: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.


ventricular septal defect, domestic cat

description: Ventricular septal defect that occurs in domestic cat.


name: craniodiaphyseal dysplasia, autosomal dominant


mitochondrial DNA depletion syndrome 11

description: Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.


IMPG2-related recessive retinopathy

description: Any retinopathy caused by bi-allelic variants in the IMPG2 gene.


name: neurodevelopmental disorder with microcephaly, short stature, and speech delay


name: partial deletion of the long arm of chromosome 13

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.


Astley-Kendall dysplasia

description: Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.


name: Okihiro syndrome due to 20q13 microdeletion


cerebellar liponeurocytoma

description: A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)


description: Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.


name: cystic leukoencephalopathy without megalencephaly

description: Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.


name: spinocerebellar ataxia, autosomal recessive 30


chromosome 3 disorder

description: Chromosomal disorder in which chromosome 3 is affected.


hypomyelinating leukodystrophy 3

description: Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.


atrial septal defect 8

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.


name: partial trisomy of the long arm of chromosome 16


name: diabetes insipidus, nephrogenic, X-linked


anterior cerebral artery infarction

description: Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.


cryptorchidism, pig

description: Cryptorchidism that occurs in pig.


name: parkinsonism with dementia of Guadeloupe

description: Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.


benign neoplasm of gum

description: A benign neoplasm that involves the gingiva.


Stromme syndrome

description: An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).


cardiovascular neoplasm

description: A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.


lysosomal storage disease, kangaroo

description: Lysosomal storage disease that occurs in kangaroo.


Mazabraud syndrome

description: Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.


stromal sarcoma

description: A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.


Hunter-McAlpine craniosynostosis

description: Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).


Lambert syndrome

description: Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.


name: syndrome caused by partial chromosomal deletion

description: A chromosomal disorder consisting of the absence of a part of a chromosome.


onychomatricoma

description: A neoplasm involving a UBERON:0002283.


familial goiter, dog

description: Familial goiter that occurs in dog.


pneumonia of swine, mycoplasmal

description: A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.


external hirudiniasis

description: The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.


acute fatty liver of pregnancy

description: Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.


description: Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.


bulbomembranous urethral cancer

description: A malignant neoplasm that affects the bulbomembranous part of the urethra.


paraneoplastic pemphigus

description: Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare.


Bacteroides infectious disease

description: Infections with bacteria of the genus bacteroides.


O'Sullivan-McLeod syndrome

description: O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.


syringomyelia, dog

description: Syringomyelia that occurs in dog.


name: atypical hemolytic uremic syndrome with complement gene abnormality


feline osteosarcoma

description: Osteosarcoma that occurs in a cat.


name: autosomal recessive spinocerebellar ataxia 7

description: Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.


keratosis palmoplantaris striata 3

description: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.


name: dyskeratosis congenita, autosomal recessive 8


mouth mucosa disorder

description: A disease or disorder that involves the mouth mucosa.


meningovascular neurosyphilis

description: A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.


nephrotic syndrome, type 2

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.


name: maternal uniparental disomy of chromosome 4

description: Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


AL amyloidosis, domestic cat

description: AL amyloidosis that occurs in domestic cat.


familial adenomatous polyposis 1

description: Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.


retinitis pigmentosa 47

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


Charcot-Marie-Tooth disease type 1C

description: Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.


name: acute necrotizing encephalopathy of childhood

description: Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.


petrositis

description: Inflammation of petrous bone.


name: Leber congenital amaurosis with early-onset deafness


Alphavirus infectious disease

description: Virus diseases caused by members of the alphavirus genus of the family togaviridae.


foodborne botulism

description: Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.


Wilson disease, non-human animal

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


name: skeletal dysplasia-epilepsy-short stature syndrome

description: Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.


hyperglobulinemic purpura

description: Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 4

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.


optic atrophy 2

description: A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.


Warburg micro syndrome

description: Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.


thyroid dyshormonogenesis 5

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.


name: mandibuloacral dysplasia with type B lipodystrophy


name: peroxisome biogenesis disorder 1A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


orbital leiomyoma

description: Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.


name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


calcifying fibrous tumor

description: A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.


dacryocystitis, non-human animal

description: Dacryocystitis that occurs in non-human animals.


name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


hereditary spastic paraplegia 25

description: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.


name: epidermolytic hyperkeratosis 2B, autosomal recessive


name: intellectual developmental disorder, autosomal recessive 77


name: multiple acyl-coa dehydrogenase deficiency, non-human animal

description: Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals.


latent syphilis

description: A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.


name: congenital partial agenesis of pericardium

description: Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.


name: cerebral amyloid angiopathy, domestic cat

description: Cerebral amyloid angiopathy that occurs in domestic cat.


inherited mitral valve disease

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


name: autosomal recessive nonsyndromic hearing loss 55

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.


familial schizencephaly

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


name: autosomal recessive congenital ichthyosis 2

description: An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.


faciocardiorenal syndrome

description: Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.


tuberculoid leprosy

description: A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.


name: intellectual disability, autosomal dominant 58


AA amyloidosis, sheep

description: AA amyloidosis that occurs in sheep.


ring chromosome 5

description: Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).


name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.


name: intellectual disability, autosomal recessive 33


name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

description: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.


pseudohypoparathyroidism type 1C

description: A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).


name: oculoauriculovertebral spectrum with radial defects

description: Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.


trisomy 4p

description: Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.


pentalogy of Cantrell

description: Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.


name: optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


Brugada syndrome 8

description: Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.


uncombable hair syndrome 2

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.


leptomyelolipoma

description: Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.


canine pancreatic carcinoma

description: Pancreatic carcinoma that occurs in a dog.


blepharocheilodontic syndrome 2

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.


primary ciliary dyskinesia 34

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.


cone-rod dystrophy 9

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.


keratitis, non-human animal

description: Keratitis that occurs in non-human animals.


myopia 21, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.


name: combined oxidative phosphorylation deficiency 48


hemophilia B, non-human animal

description: Hemophilia B that occurs in non-human animals.


vestibular gland benign neoplasm

description: A benign neoplasm that involves the vestibular gland.


name: chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase


name: tall stature-scoliosis-macrodactyly of the great toes syndrome

description: Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.


benign neoplasm of salivary gland

description: A benign neoplasm that involves the saliva-secreting gland.


Jacobsen syndrome, non-human animal

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


central cloudy dystrophy of François

description: Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.


polycystic kidney disease, horse

description: Polycystic kidney disease that occurs in horse.


name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

description: A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.


name: xeroderma pigmentosum-Cockayne syndrome complex

description: Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).


epidermolysis bullosa dystrophica

description: A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.


tuberculous ascites

description: A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.


idiopathic posterior uveitis

description: Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.


name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2

description: A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.


benign neoplasm of trachea

description: A benign neoplasm that involves the trachea.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


name: syndromic X-linked intellectual disability 94

description: A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.


name: infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome


intellectual disability, X-linked 1

description: An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.


name: paternal uniparental disomy of chromosome 14


acrofacial dysostosis Rodriguez type

description: Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.


name: ciliary dyskinesia, primary, 36, X-linked

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.


description: A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).


name: hereditary motor and sensory neuropathy type 6


muscular dystrophy, turkey

description: Muscular dystrophy that occurs in turkey.


name: autosomal dominant nocturnal frontal lobe epilepsy 4

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


Joubert syndrome 1

description: Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.


Meckel syndrome, type 3

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


childhood testicular germ cell tumor

description: A germ cell tumor that arises from the testis during childhood.


name: SCN4A-related myopathy, autosomal recessive

description: Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.


glomerulonephritis, dog

description: Glomerulonephritis that occurs in dog.


name: lethal congenital contracture syndrome 8

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.


name: neurodevelopmental disorder with dystonia and seizures


holoprosencephaly 6

description: A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.


name: X-linked complex neurodevelopmental disorder

description: A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.


name: monosomy 7 myelodysplasia and leukemia syndrome 2


name: immunodeficiency-centromeric instability-facial anomalies syndrome

description: The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.


pyloric stenosis, domestic cat

description: Pyloric stenosis that occurs in domestic cat.


name: epidermolysis bullosa, junctional 6, with pyloric atresia


name: autoinflammatory disease, multisystem, with immune dysregulation, X-linked


name: Huntington disease and related disorders

description: A grouping for Huntington disease and similar diseases.


obstetric disorder

description: Disorder associated with pregnancy, childbirth, and puerperium.


hypospadias, cattle

description: Hypospadias that occurs in cattle.


Van den Ende-Gupta syndrome, dog

description: Van den Ende-Gupta syndrome that occurs in dog.


name: mitochondrial myopathy with a defect in mitochondrial-protein transport


polycystic kidney disease, lion

description: Polycystic kidney disease that occurs in lion.


name: childhood sarcoma with BCOR genetic alterations

description: A sarcoma with BCOR genetic alterations that occurs during childhood.


cerebellar degeneration, domestic cat

description: Cerebellar degeneration that occurs in domestic cat.


platelet-type bleeding disorder 16

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.


name: mitochondrial complex II deficiency, nuclear type


epispadias

description: Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.


connective tissue disorder

description: A disease involving the connective tissue.


peeling skin syndrome

description: Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.


mesomelic dysplasia, Savarirayan type

description: Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.


name: hypogonadotropic hypogonadism 21 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.


name: myelodysplastic syndrome with excess blasts-1

description: A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)


Picornaviridae infectious disease

description: Virus diseases caused by the picornaviridae.


name: cold-induced sweating syndrome - hyperthermia spectrum


Fanconi anemia complementation group U

description: Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.


ciliary body mixed cell melanoma

description: A mixed cell uveal melanoma that involves the ciliary body.


fetal akinesia deformation sequence 3

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.


name: lissencephaly and cerebellar hypoplasia, non-human animal

description: Lissencephaly and cerebellar hypoplasia that occurs in non-human animals.


erythrocytosis, familial, 3

description: Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.


disorder of peroxisomal alpha oxidation

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


phencyclidine abuse

description: The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.


dysautonomia, horse

description: Dysautonomia that occurs in horse.


pythiosis

description: A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.


name: hypophosphatemic rickets, autosomal recessive, 2

description: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.


description: This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.


Leber plus disease

description: Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.


patent urachus, domestic cat

description: Patent urachus that occurs in domestic cat.


Krabbe disease, dog

description: Krabbe disease that occurs in dog.


cataract 27

description: A cataract that has material basis in mutation in the region 2p12.


neoplasm of minor salivary gland

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


name: short stature-webbed neck-heart disease syndrome

description: Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.


pituitary apoplexy

description: A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.


name: sporadic infantile bilateral striatal necrosis

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


tooth agenesis, selective, X-linked, 1

description: Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.


name: herpes simplex type 1 infectious disease

description: A disease caused by infection with herpes simplex type 1.


toxicodendron dermatitis

description: An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)


vagus nerve neoplasm

description: A neoplasm involving a vagus nerve.


autosomal recessive osteopetrosis 1

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.


hypomyelinating leukodystrophy 4

description: Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.


name: intellectual disability, autosomal dominant 51


name: X-linked intellectual disability-hypotonia-movement disorder syndrome


name: avascular necrosis of femoral head, primary, 2


name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies


name: partial deletion of the short arm of chromosome 1

description: Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


benign smooth muscle neoplasm

description: A benign mesenchymal neoplasm arising from smooth muscle tissue.


name: lethal congenital contracture syndrome 1

description: Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.


Pseudomonas aeruginosa CF5 infection

description: A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.


congenital myopathy, dog

description: Congenital myopathy that occurs in dog.


laminopathy type Decaudain-Vigouroux

description: Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.


description: Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.


neuropathy, hereditary sensory, type 1D

description: A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.


description: Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.


name: acute myeloid leukemia, KIT exon 8 mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)


familial temporal lobe epilepsy 7

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.


name: aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

description: Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.


isolated congenital anosmia

description: This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.


name: spastic paraplegia 81, autosomal recessive


name: ichthyosiform erythroderma, corneal involvement, and hearing loss


name: proteasome-associated autoinflammatory syndrome 2


name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form


acute necrotizing encephalitis

description: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)


seizures, benign familial infantile, 3

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.


name: SIN3A-related intellectual disability syndrome


name: unbalanced Robertsonian translocation Down syndrome

description: Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes.


spermatogenic failure 15

description: Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.


benign sertoli cell tumor

description: A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.


name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


vulva fibroepithelial polyp

description: A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.


candidiasis, familial, 8

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.


microphthalmia, Lenz type

description: A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.


astereognosia

description: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.


name: microcephaly sparse hair intellectual disability seizures


microphthalmia, golden hamster

description: Microphthalmia that occurs in golden hamster.


tooth erosion, non-bacterial

description: Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)


name: microcephaly 16, primary, autosomal recessive


myofibrillar myopathy 7

description: Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.


disorder of pharynx

description: A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.


LADD syndrome

description: A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.


name: synovial chondromatosis, great horned owl

description: Synovial chondromatosis that occurs in great horned owl.


skeletal muscle cancer

description: A malignant neoplasm arising from skeletal muscle.


trisomy 20p

description: Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.


osteochondritis dissecans, snow leopard

description: Osteochondritis dissecans that occurs in snow leopard.


name: Carney complex - trismus - pseudocamptodactyly syndrome

description: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).


name: polydactyly of a biphalangeal thumb, unilateral


name: infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome


retinitis pigmentosa 49

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.


Waardenburg syndrome type 2E

description: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.


Siberian tick typhus

description: A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.


cerebral gigantism-jaw cysts syndrome

description: Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.


spinocerebellar ataxia type 18

description: Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.


name: developmental and epileptic encephalopathy, 33

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.


CACNA1F-related retinopathy

description: Any retinopathy caused by a variant in the CACNA1F gene.


name: spinocerebellar degeneration with slow eye movements


name: alopecia congenita keratosis palmoplantaris


name: supravalvular aortic stenosis, non-human animal

description: Supravalvular aortic stenosis that occurs in non-human animals.


coenzyme Q10 deficiency, primary, 1

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.


name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


name: congenital absence of both lower leg and foot, unilateral


Perrault syndrome 5

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


ABeta amyloidosis, Iowa type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.


name: epileptic encephalopathy, infantile or early childhood


cherubism

description: Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.


uterine corpus myxoid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


Tel Hashomer camptodactyly syndrome

description: Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.


dysraphic spinal cord lipoma

description: A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.


ST2 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.


uterine corpus neuroendocrine neoplasm

description: An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.


name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


name: Turner syndrome due to structural X chromosome anomalies


name: genital herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the genitals.


cataract 15 multiple types

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


name: congenital muscular dystrophy due to integrin alpha-7 deficiency

description: Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


Martinez Monasterio Pinheiro syndrome

description: A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: peroxisome biogenesis disorder due to PEX19 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.


name: neuronopathy, distal hereditary motor, type 9


name: pure or complex hereditary spastic paraplegia


odontogenic cyst

description: A cyst in the jaw that arises from tissues of tooth development.


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.


name: arterial calcification, generalized, of infancy, 1

description: An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.


name: cerebroretinal microangiopathy with calcifications and cysts 3


urinary system disorder

description: A disease involving the renal system.


nemaline myopathy 9

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.


glandular tularemia

description: A tularemia that involves the lymph node.


retinitis pigmentosa 7

description: A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.


intestinal polyposis syndrome

description: A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.


name: autosomal recessive nonsyndromic hearing loss 77

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.


eye degenerative disorder

description: A neurodegenerative disease that involves the eye.


name: benign female reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.


name: X-linked intellectual disability, Porteous type


clitoris cancer

description: A malignant neoplasm that affects the clitoris.


benign tumor of palpebral epidermis

description: A benign neoplasm that involves the skin of eyelid.


lymphatic malformation 3

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.


neurally mediated hypotension

description: Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal


cataract 7

description: A cataract that has material basis in variation in the region 17q24.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.


name: epidermolysis bullosa simplex 7, with nephropathy and deafness


gangliosidosis, pig

description: Gangliosidosis that occurs in pig.


name: autosomal recessive nonsyndromic hearing loss 74

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.


cataract 23

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.


aortic aneurysm, familial thoracic 8

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.


name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


name: ankylosing spondylitis, non-human animal

description: Ankylosing spondylitis that occurs in non-human animals.


clitoris neoplasm

description: A neoplasm involving a clitoris.


dilated cardiomyopathy, dog

description: Dilated cardiomyopathy that occurs in dog.


name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


spinocerebellar ataxia type 26

description: Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.


nephritis, dog

description: Nephritis that occurs in dog.


name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


name: autosomal recessive spastic paraplegia type 78

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.


night blindness, cattle

description: Night blindness that occurs in cattle.


name: adult-onset progressive leukoencephalopathy-early-onset deafness

description: A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.


hamartoma of skin appendage

description: A hamartoma (disease) that involves the cutaneous appendage.


multiple endocrine neoplasia

description: Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.


inherited rippling muscle disease

description: A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.


name: autoinflammatory syndrome, familial, Behcet-like


name: cerebral amyloid angiopathy, non-human animal

description: Cerebral amyloid angiopathy that occurs in non-human animals.


2p21 microdeletion syndrome

description: The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.


name: musculoskeletal system disorder, non-human animal

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


chronic monocytic leukemia, dog

description: Chronic monocytic leukemia that occurs in dog.


galactosialidosis, non-human animal

description: Galactosialidosis that occurs in non-human animals.


Schmid metaphyseal chondrodysplasia

description: Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.


delayed membranous cranial ossification

description: Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.


epilepsy, familial adult myoclonic, 5

description: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.


epilepsy, domestic cat

description: Epilepsy that occurs in domestic cat.


name: autosomal dominant nonsyndromic hearing loss 27

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.


name: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

description: Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.


name: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

description: A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.


name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


name: uterine corpus epithelioid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


name: neuropathy, hereditary sensory, atypical

description: A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.


cataract 8 multiple types

description: A cataract that has material basis in variation in the region 1pter-p36.13.


name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

description: A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.


name: myopathy, congenital, with fiber-type disproportion, X-linked


description: Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.


description: 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.


name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome

description: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.


name: qualitative or quantitative defects of tropomyosin


Bardet-Biedl syndrome 8

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.


hemophilia B, pig

description: Hemophilia B that occurs in pig.


name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


familial multiple meningioma

description: Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.


properdin deficiency, X-linked

description: A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.


Blake pouch cyst

description: Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.


SPAST-related motor disorder

description: Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,