description: A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.


name: immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection

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


name: combined oxidative phosphorylation deficiency 52


prostate cancer, dog

description: Prostate cancer that occurs in dog.


hirudiniasis

description: An disease or disorder caused by infection with Hirudinea.


name: mixed phenotype acute leukemia,T/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.


name: autism spectrum disorder, non-human animal

description: Autism spectrum disorder that occurs in non-human animals.


fish eye disease

description: Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.


familial benign copper deficiency

description: Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.


name: congenital dyserythropoietic anemia type 3

description: Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.


name: recessive aplasia cutis congenita of limbs

description: Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.


name: CIDEC-related familial partial lipodystrophy


name: defect in conserved oligomeric Golgi complex


name: difference of sexual differentiation, non-human animal


vaginal fibroepithelial polyp

description: A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.


name: intellectual disability, autosomal recessive 10


Leber congenital amaurosis 15

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.


retinal detachment, non-human animal

description: Retinal detachment that occurs in non-human animals.


Fusobacteriaceae infectious disease

description: Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.


bacterial hemorrhagic fever

description: A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.


hyperplastic polyp

description: A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).


oculotrichodysplasia

description: Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.


hereditary optic atrophy

description: A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.


congenital enterovirus infection

description: Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.


benign prostatic hyperplasia, dog

description: Benign prostatic hyperplasia that occurs in dog.


achondroplasia, dog

description: Achondroplasia that occurs in dog.


inborn disorder of energy metabolism

description: An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


adrenomyodystrophy

description: Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.


name: partial duplication of the short arm of chromosome 3

description: Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.


Meckel syndrome, type 8

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.


chromosome 12 disorder

description: Chromosomal disorder in which chromosome 12 is affected.


absence of innominate vein

description: Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.


acute bilirubin encephalopathy

description: A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.


name: progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


Evans syndrome, horse

description: Evans syndrome that occurs in horse.


leukemia, myeloid, accelerated-phase

description: The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.


name: CELSR1-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.


chromosome 6q24-q25 deletion syndrome

description: 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.


Coffin-Siris syndrome 7

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.


myopia, dog

description: Myopia that occurs in dog.


name: intellectual disability, autosomal recessive 51

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


name: inborn disorder of amino acid and other organic acid metabolism


name: spongiform encephalopathy with neuropsychiatric features


name: COG6-ongenital disorder of glycosylation


leukoplakia of vagina

description: Leukoplakia of the vagina.


elastofibroma dorsi

description: A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.


name: congenital pulmonary airway malformation type 0


occupational disorder, non-human animal

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


synovium disorder

description: A disease or disorder that involves the layer of synovial tissue.


name: dyskeratosis congenita, autosomal dominant 3

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.


name: persistent truncus arteriosus, domestic cat

description: Persistent truncus arteriosus that occurs in domestic cat.


name: central nervous system hematopoietic neoplasm

description: A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.


frontometaphyseal dysplasia 2

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.


name: complete atrioventricular canal-left heart obstruction syndrome


name: immunodeficiency 78 with autoimmunity and developmental delay


cervical Wilms tumor

description: An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.


name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, domestic cat

description: Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in domestic cat.


name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

description: Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.


factor XII deficiency, domestic cat

description: Factor XII deficiency that occurs in domestic cat.


secondary syringomyelia

description: Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.


benign essential hypertension

description: A condition of mild to moderate high blood pressure that has no identifiable cause.


name: mitochondrial complex 1 deficiency, nuclear type 29


poorly differentiated chordoma

description: A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.


myxoid leiomyosarcoma

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


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2

description: A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.


name: combined oxidative phosphorylation deficiency 57


cerebellopontine angle tumor

description: A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.


paroxysmal dyskinesia, non-human animal

description: Paroxysmal dyskinesia that occurs in non-human animals.


IMPG2-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the IMPG2 gene.


uterine ligament cancer

description: A primary or metastatic malignant neoplasm that affects the uterine ligament.


bejel

description: A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.


Bartter disease type 5

description: Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.


name: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


name: metaphyseal dysplasia, Braun-Tinschert type

description: Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.


chondromyxoid fibroma

description: An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.


AA amyloidosis, cattle

description: AA amyloidosis that occurs in cattle.


vibrio vulnificus infectious disease

description: An disease or disorder caused by infection with Vibrio vulnificus.


bubonic plague

description: A plague in which the bacteria have infected the lymphatic system.


penile disorder

description: A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.


brachydactyly, non-human animal

description: Brachydactyly that occurs in non-human animals.


name: syndromic X-linked intellectual disability Shashi type

description: X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.


name: developmental and epileptic encephalopathy, 51

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


coronary arterial fistulas

description: Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.


elliptocytosis 1

description: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.


description: A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.


psychogenic polydipsia

description: A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.


phytanoyl-CoA hydroxylase deficiency

description: Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


central nervous system lipoma

description: A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.


premature ovarian failure 12

description: Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.


nephronophthisis 12

description: Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.


description: Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.


name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


name: osteopathia striata with cranial sclerosis

description: Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.


name: peroxisome biogenesis disorder due to PEX10 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


acquired porencephaly

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


autosomal recessive Robinow syndrome

description: Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.


visceral calciphylaxis

description: Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.


name: Ehlers-Danlos syndrome, periodontal type 2


name: intellectual disability, autosomal recessive 27

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.


name: Anaplasmataceae infectious disease, non-human animal

description: Anaplasmataceae infectious disease that occurs in non-human animals.


name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

description: Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.


benign neoplasm of nasopharynx

description: A benign neoplasm that involves the nasopharynx.


cercarial dermatitis

description: An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.


name: lissencephaly and cerebellar hypoplasia, sheep

description: Lissencephaly and cerebellar hypoplasia that occurs in sheep.


retinitis pigmentosa 20

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.


congenital megacalycosis

description: Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.


patent urachus, mountain zebra

description: Patent urachus that occurs in mountain zebra.


name: primary central precocious puberty in male


acrocoxomesomelic dysplasia

description: A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.


single-organ polyarteritis nodosa

description: Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.


branchiootic syndrome 1

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


name: desmin-related myopathy with Mallory body-like inclusions


name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

description: Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.


hereditary disease

description: A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


name: congenital stenosis of the inferior vena cava


amelogenesis imperfecta type 1H

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.


Usher syndrome type 2D

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


secondary syphilis

description: The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.


complement component 6 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.


Charcot-Marie-Tooth disease type 2B5

description: A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.


giant axonal neuropathy 2

description: Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.


name: hyperlysinemia due to defect in lysine transport into mitochondria


Madras motor neuron disease

description: Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.


benign Leydig cell tumor

description: A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.


localized lipodystrophy

description: Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.


name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


name: short-rib thoracic dysplasia 7 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.


name: pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

description: A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.


name: avascular necrosis of femoral head, primary, 1

description: Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.


platelet-type bleeding disorder 11

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.


name: acute myeloid leukemia with minimal differentiation

description: An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)


hereditary spastic paraplegia 14

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.


hypotrichosis 11

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


orofaciodigital syndrome V

description: Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).


name: epidermolysis bullosa, junctional 3A, intermediate


name: hirsutism-skeletal dysplasia-intellectual disability syndrome


name: mandibuloacral dysplasia with type A lipodystrophy

description: A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.


name: Erysipelothrix infectious disease, non-human animal

description: Erysipelothrix infectious disease that occurs in non-human animals.


free sialic acid storage disease

description: Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).


name: upper limb defect-eye and ear abnormalities syndrome

description: Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.


peroxisome biogenesis disorder 5B

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


true myeloschisis

description: A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).


name: pulmonary hypertension owing to lung disease and/or hypoxia


name: neuropathy, hereditary sensory and autonomic, type IId


ureteral disorder

description: A non-neoplastic or neoplastic disorder affecting the ureter.


name: bacterial infectious disease, non-human animal

description: Bacterial infectious disease that occurs in non-human animals.


name: dyskeratosis congenita, autosomal dominant 4


name: myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


name: combined oxidative phosphorylation deficiency 53

description: An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.


anterior nasal diphtheria

description: Infection of the anterior nasal structures by Corynebacterium diphtheriae.


fibrosclerosis, multifocal

description: A rare syndrome of unknown etiology characterized by progressive fibrosis involving multiple organ sites.


pulp erosion

description: A tooth erosion, non-bacterial that involves the dental pulp.


name: spastic paraplegia 82, autosomal recessive

description: Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.


acute myeloid leukemia, Monosomy 5

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)


Say-field-Coldwell syndrome

description: Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.


benign neoplasm of cerebellum

description: A benign neoplasm that involves the cerebellum.


onychocytic matricoma

description: Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.


entropion, pig

description: Entropion that occurs in pig.


name: cor triatriatum dexter, non-human animal

description: Cor triatriatum dexter that occurs in non-human animals.


juvenile absence epilepsy

description: A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.


AA amyloidosis, goat

description: AA amyloidosis that occurs in goat.


coloboma, llama

description: Coloboma that occurs in llama.


name: epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


ophthalmomyiasis

description: An myiasis caused by infection with Oestrus ovis.


dermis disorder

description: A disease that involves the dermis.


Wilson disease, dog

description: Wilson disease that occurs in dog.


central precocious puberty 1

description: Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.


Sinding-Larsen-Johansson disease

description: Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.


name: external auditory canal atresia-vertical talus-hypertelorism syndrome


primary ciliary dyskinesia 30

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.


name: congenital myopathy with reduced type 2 muscle fibers


description: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.


name: holoprosencephaly-radial heart renal anomalies syndrome

description: Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.


hereditary spastic paraplegia 12

description: Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.


name: X-linked lethal multiple pterygium syndrome

description: X-linked form of lethal multiple pterygium syndrome.


name: epidermolysis bullosa, junctional 4, intermediate


dominant beta-thalassemia

description: Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.


dermatoosteolysis, Kirghizian type

description: Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.


name: disseminated visceral giant cell angiitis

description: A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.


dentine erosion

description: A tooth erosion, non-bacterial that involves the dentine.


Nevada syndrome

description: NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.


3MC syndrome 2

description: Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.


name: hypogonadotropic hypogonadism 14 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.


hereditary spastic paraplegia 32

description: Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.


name: hypercholesterolemia, autosomal dominant, 3

description: Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.


hereditary spastic paraplegia 36

description: Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.


name: SIN3A-related intellectual disability syndrome due to a point mutation


nocturnal enuresis, 2

description: Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.


name: microcephaly 13, primary, autosomal recessive

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


name: intellectual developmental disorder, autosomal dominant 74


ABeta amyloidosis, Italian type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.


name: nasal cavity and paranasal sinus lethal midline granuloma

description: An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.


name: Koolen-de Vries syndrome due to a point mutation


name: developmental and epileptic encephalopathy, 88


name: pituitary deficiency due to Rathke's pouch cysts


name: brain small vessel disease 1 with or without ocular anomalies

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.


name: myalgia-eosinophilia syndrome associated with tryptophan

description: A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.


14q12 microdeletion syndrome

description: 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.


name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


aorta atresia

description: An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.


lip disorder

description: A disease involving the lip.


KIZ-related retinopathy

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


name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

description: A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


canine gastrointestinal stromal tumor

description: A gastrointestinal stromal tumor occurring in a dog.


name: sickle cell-hemoglobin d disease syndrome

description: A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.


Bardet-Biedl syndrome 11

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.


immunodeficiency 37

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.


name: paternal uniparental disomy of chromosome 13

description: Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


name: advance sleep phase syndrome, familial, 4


name: autosomal recessive spastic paraplegia type 69


name: developmental and epileptic encephalopathy, 43

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


ectodermal dysplasia 9, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.


name: MELAS syndrome caused by mutation in MTTQ

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


juvenile overlap myositis

description: Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.


pyruvate dehydrogenase E2 deficiency

description: Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


orofacial cleft 11

description: Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.


name: benign vaginal mixed epithelial and mesenchymal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.


name: mitochondrial complex I deficiency, mitochondrial type


Powassan encephalitis

description: A disease caused by infection with Powassan virus.


ophthalmic herpes zoster

description: Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.


name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


name: melanoma, cutaneous malignant, susceptibility to, 5


name: pectus excavatum-macrocephaly-dysplastic nails syndrome

description: Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.


name: developmental and epileptic encephalopathy, 37

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


name: developmental and epileptic encephalopathy, 47

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


name: multiple epiphyseal dysplasia, with miniepiphyses

description: Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.


description: Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.


theileriasis

description: Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.


familial adenomatous polyposis 4

description: An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.


tinea imbricata

description: A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.


name: CHRNG-associated hypo-akinesia disorder of prenatal onset

description: A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.


congenital prothrombin deficiency

description: Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.


name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant


name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


oculopharyngodistal myopathy 2

description: An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course.


focal segmental glomerulosclerosis 7

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.


infantile spasms-broad thumbs syndrome

description: A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.


necatoriasis

description: A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.


name: childhood multilocular cystic kidney neoplasm

description: A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.


parasitic skin disorder

description: Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.


pelvic varices

description: A varicose disease that involves the pelvic region of trunk.


hepatitis, non-human animal

description: Inflammation of the liver in non-human animals.


autosomal dominant vibratory urticaria

description: An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.


name: autosomal recessive familial Mediterranean fever

description: Autosomal recessive form of familial Mediterranean fever.


name: partial deletion of the short arm of chromosome 7

description: Chromosome 7p 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 7. 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 7p 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.


name: hemophagocytic lymphohistiocytosis, familial, 6


name: partial trisomy/tetrasomy of chromosome 5


anonychia with flexural pigmentation

description: Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.


name: spinocerebellar ataxia, autosomal recessive 27


name: partial duplication of the short arm of chromosome 10


name: maternal uniparental disomy of chromosome 13

description: Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


benign occipital epilepsy

description: Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.


name: dystrophic epidermolysis bullosa, nails only

description: Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.


AL amyloidosis, horse

description: AL amyloidosis that occurs in horse.


description: Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.


erythrokeratodermia variabilis

description: A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.


name: physiological malfunction arising from mental factor

description: A dysfunction in biological function that is due to a psychological process.


name: vitamin K-dependent clotting factors, combined deficiency of, type 1

description: Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.


rigid spine muscular dystrophy 1

description: An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.


pontocerebellar hypoplasia, type 2F

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.


uveoparotid fever

description: A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.


primary pediatric heart tumor

description: Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.


osteochondrosis, pig

description: Osteochondrosis that occurs in pig.


diaphragma sellae meningioma

description: A meningioma that affects the diaphragma sellae.


Norwegian scabies

description: A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.


cutaneous liposarcoma

description: A malignant adipose tissue neoplasm of the skin.


fibular aplasia-ectrodactyly syndrome

description: Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.


name: mitochondrial complex 2 deficiency, nuclear type 3


nephrotic syndrome, type 8

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


Rieger anomaly

description: Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.


acquired rippling muscle disease

description: The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.


tibio-fibular synostosis

description: Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.


ring chromosome 11

description: Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.


name: junctional epidermolysis bullosa inversa

description: Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.


alpha-mannosidosis, non-human animal

description: Alpha-mannosidosis that occurs in non-human animals.


deletion 5q35

description: Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


sunburn

description: An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.


name: partial deletion of the short arm of chromosome 16


name: peritoneal well differentiated papillary mesothelioma

description: A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.


scoliosis, non-human animal

description: Scoliosis that occurs in non-human animals.


pulmonary branch stenosis

description: Narrowing of the lumen of the right or left pulmonary artery branch.


malignant histiocytosis, cattle

description: Malignant histiocytosis that occurs in cattle.


pachyonychia congenita 4

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.


thyroid dyshormonogenesis 6

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.


orofaciodigital syndrome VIII

description: Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.


description: Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.


prosopagnosia, hereditary

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


name: cone-rod synaptic disorder, congenital nonprogressive


microphthalmia, sheep

description: Microphthalmia that occurs in sheep.


name: congenital disorder of glycosylation, type IIq


name: early-onset calcifying leukoencephalopathy-skeletal dysplasia


name: maternal uniparental disomy of chromosome 9

description: Maternal uniparental disomy of chromosome 9 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.


familial goiter, golden hamster

description: Familial goiter that occurs in golden hamster.


name: glaucoma with elevated episcleral venous pressure


spina bifida, domestic cat

description: Spina bifida that occurs in domestic cat.


peritoneal multicystic mesothelioma

description: A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.


protozoan infections, animal

description: Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.


name: mitochondrial complex III deficiency nuclear type 1

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.


hydranencephaly, cattle

description: Hydranencephaly that occurs in cattle.


internal hirudiniasis

description: A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.


Dictyocaulus infectious disease

description: Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation.


Kandori fleck retina

description: Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.


hypoparathyroidism, domestic cat

description: Hypoparathyroidism that occurs in domestic cat.


name: intermediate collagen VI-related muscular dystrophy

description: A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.


vestibulocochlear nerve disorder

description: A disease involving the vestibulocochlear nerve.


Meckel syndrome, type 6

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


amelogenesis imperfecta type 1F

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


orofaciodigital syndrome type II

description: Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.


achondrogenesis type IB

description: Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.


spinocerebellar ataxia type 36

description: Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.


name: lethal short-limb skeletal dysplasia, Al Gazali type


Carney complex, type 1

description: Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.


orofaciodigital syndrome type 12

description: Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.


name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.


polycystic kidney disease, dog

description: Polycystic kidney disease that occurs in dog.


amelogenesis imperfecta, type 3A

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.


Abruzzo-Erickson syndrome

description: Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.


inborn metal metabolism disorder

description: An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.


cranio-osteoarthropathy

description: Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.


extracutaneous mastocytoma

description: A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003


spinocerebellar ataxia type 29

description: Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.


inherited prekallikrein deficiency

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


name: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

description: A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.


name: basal cell carcinoma, susceptibility to, 7

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


talo-patello-scaphoid osteolysis

description: Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.


stromal corneal dystrophy

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


platelet-type bleeding disorder 9

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.


split hand

description: Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1


name: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies


cerebral arterial disease

description: Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.


name: spastic ataxia-dysarthria due to glutaminase deficiency


name: qualitative or quantitative defects of gamma-sarcoglycan


disorder of GNAS inactivation

description: Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).


hypoalphalipoproteinemia, primary, 1

description: Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.


hyperparathyroidism, dog

description: Hyperparathyroidism that occurs in dog.


name: genital herpes simplex type 2 infectious disorder

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


name: developmental and epileptic encephalopathy, 11

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


Mendelian encephalopathy

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


aleutian mink disease, human

description: A human disease caused by infection with Aleutian mink disease parvovirus.


ostertagiasis

description: A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.


familial goiter, cattle

description: Familial goiter that occurs in cattle.


congenital laryngeal palsy

description: Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.


name: telangiectasia, hereditary hemorrhagic, type 5

description: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.


name: premature aging syndrome, non-human animal

description: Premature aging syndrome that occurs in non-human animals.


split hand, unilateral

description: Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


name: maternal uniparental disomy of chromosome 22


carpotarsal osteochondromatosis

description: Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.


name: myopathy, congenital, with respiratory insufficiency and bone fractures


renal hypodysplasia/aplasia 2

description: Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.


cutaneous solitary mastocytoma

description: A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.


spastic monoplegia

description: A spastic cerebral palsy that affects only one limb.


name: metachromatic leukodystrophy, juvenile form

description: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.


eastern equine encephalitis

description: Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.


name: spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia


name: proximal chromosome 18q deletion syndrome

description: Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.


2q23.1 microduplication syndrome

description: 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.


pineal region meningioma

description: A meningioma that affects the pineal gland.


hamel cerebro-palato-cardiac syndrome

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


name: acute myeloid leukemia with t(6;9)(p23;q34)

description: Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.


name: qualitative or quantitative defects of alpha-sarcoglycan


lichen planus pigmentosus

description: Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.


name: erythrokeratodermia variabilis et progressiva 5


name: combined immunodeficiency due to partial RAG1 deficiency

description: A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.


disorder of methylamine metabolism

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


osteogenesis imperfecta type 17

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


protein-energy malnutrition

description: A nutritional deficit that is caused by inadequate protein or calorie intake.


urolithiasis, domestic cat

description: Urolithiasis that occurs in domestic cat.


name: intellectual disability, autosomal recessive 53


vitelliform macular dystrophy 4

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.


autosomal genetic disease

description: A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


pyeloureteritis cystica

description: A non-neoplastic lesion of the ureter characterized by the presence of multiple submucosal small cysts in the ureteral wall.  It is caused by inflammation due to urinary tract stones or infection.


limited dorsal myeloschisis

description: A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.


osteochondrosis, dog

description: Osteochondrosis that occurs in dog.


name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


radiation-induced disorder

description: A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.


name: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome


primary ciliary dyskinesia 25

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.


autosomal recessive distal titinopathy

description: A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.


tibial hemimelia, cattle

description: Tibial hemimelia that occurs in cattle.


cone-rod dystrophy 18

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.


name: Ehlers-Danlos syndrome, dermatosparaxis type

description: A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.


rinderpest

description: A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.


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


erythematosquamous dermatosis

description: A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.


anodontia, non-human animal

description: Anodontia that occurs in non-human animals.


nemaline myopathy 6

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.


name: maternal uniparental disomy of chromosome 20

description: Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.


name: combined oxidative phosphorylation deficiency 34


name: disorder of carbohydrate transmembrane transport and absorption


ADAR-related type 1 interferonopathy

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


name: blepharophimosis-epicanthus inversus-ptosis due to copy number variations

description: Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.


name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome


name: megaconial type congenital muscular dystrophy


heartwater disease

description: A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.


name: sulfide quinone oxidoreductase deficiency


primary orthostatic hypotension

description: Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


parneoplastic endocrine syndrome

description: Paraneoplastic syndrome that involves the endocrine system.


achondrogenesis type IA

description: Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


GNPTG-mucolipidosis

description: A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


polydactyly, horse

description: Polydactyly that occurs in horse.


herpangina

description: A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.


name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

description: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.


combined PSAP deficiency

description: Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.


acquired hemoglobinopathy

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


humeral agenesis/hypoplasia

description: Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.


name: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


X-linked spinocerebellar ataxia type 4

description: Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.


name: thrombophilia, X-linked, due to factor 9 defect

description: A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).


pediatric meningioma

description: A meningioma that occurs during childhood.


neuronal ceroid lipofuscinosis 11

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.


focal facial dermal dysplasia type III

description: Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.


sterol carrier protein 2 deficiency

description: A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


name: short stature-wormian bones-dextrocardia syndrome

description: Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.


name: leukoencephalopathy with bilateral anterior temporal lobe cysts

description: Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.


name: mitochondrial complex 4 deficiency, nuclear type 14


name: intellectual disability, autosomal dominant 33

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


congenital stromal corneal dystrophy

description: Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.


description: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.


dentinogenesis imperfecta type 2

description: Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.


moderately severe hemophilia A

description: Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


hereditary spastic paraplegia 10

description: Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.


BBS9-related ciliopathy

description: Any ciliopathy caused by variants in the BBS9 gene.


spondylocostal dysostosis 5

description: Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.


glucocorticoid deficiency 2

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


amelia of lower limb

description: A non-syndromic amelia that involves the hindlimb.


alveolar periostitis

description: A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)


granular corneal dystrophy type I

description: Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


name: progressive supranuclear palsy-progressive non-fluent aphasia syndrome

description: PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.


name: spondylocostal dysostosis, autosomal recessive, dog

description: Spondylocostal dysostosis, autosomal recessive that occurs in dog.


benign neoplasm of meninges

description: A benign neoplasm that involves the meningeal cluster.


congenital myasthenic syndrome 16

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.


vitamin D-dependent rickets, type 2A

description: Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.


pulmonary artery coming from the aorta

description: Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.


name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

description: B-lymphoblastic leukemias/lymphomas characterized by the presence of recurring cytogenetic and/or molecular abnormalities.


disorder of bile acid aminotransferase

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.


isolated congenital entropion

description: A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.


name: familial steroid-resistant nephrotic syndrome with sensorineural deafness


name: macrothrombocytopenia, isolated, 2, autosomal dominant


lethal faciocardiomelic dysplasia

description: Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.


hypoplasminogenemia

description: A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.


name: neurodegeneration with brain iron accumulation 9


name: intellectual disability, autosomal dominant 1

description: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.


monkey disease

description: Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).


description: A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.


anterior optic tract meningioma

description: A meningioma that affects the anterior visual pathway.


orbital granuloma

description: A granuloma located on the orbit of the eye.


name: immunodeficiency, common variable, due to APRIL deficiency

description: Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.


benign Samaritan congenital myopathy

description: Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.


hyperaldosteronism, domestic cat

description: Hyperaldosteronism that occurs in domestic cat.


AA amyloidosis, cheetah

description: AA amyloidosis that occurs in cheetah.


name: calvarial doughnut lesions-bone fragility syndrome

description: This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.


autosomal recessive disease

description: Autosomal recessive form of disease.


name: intellectual disability, autosomal recessive 16


distal monosomy 1q

description: 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.


name: early-onset pulmonary and cutaneous vasculitis

description: A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.


alcohol and nicotine codependence

description: A drug dependence that is the physiological result of being addicted to alcohol and nicotine.


thyroid dyshormonogenesis 4

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