mitochondrial disease, non-human animal

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


RDH12-related dominant retinopathy

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

description: A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.


orbit lymphoma

description: A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.


nosophobia

description: A specific phobia that involves an irrational fear of contracting a disease.


name: fatal infantile hypertonic myofibrillar myopathy


name: Parvoviridae infectious disease, non-human animal

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


ring chromosome 12

description: Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.


advanced sleep phase syndrome 2

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.


sarcoma, non-human animal

description: Sarcoma that occurs in non-human animals.


name: intellectual disability, autosomal dominant 47


name: microcephaly 24, primary, autosomal recessive


name: foveal hypoplasia-presenile cataract syndrome


chromosome 1q41-q42 deletion syndrome

description: 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.


name: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum


mycosis fungoides and variants

description: Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.


name: serine biosynthesis pathway deficiency, infantile/juvenile form


name: autosomal recessive nonsyndromic hearing loss 12

description: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.


name: autosomal recessive secondary polycythemia not associated with VHL gene


bone development disease

description: A disease involving the bone development.


name: short-rib thoracic dysplasia 21 without polydactyly


name: partial duplication of the long arm of chromosome 15

description: Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: hypogonadotropic hypogonadism 15 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.


name: spondyloepiphyseal dysplasia, nishimura type


name: syndactyly-telecanthus-anogenital and renal malformations syndrome

description: This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.


immunodeficiency 18

description: Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.


RP1-related dominant retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the RP1 gene.


name: spondyloepimetaphyseal dysplasia, Krakow type


description: Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.


simultanagnosia

description: An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time.


Weill-Marchesani syndrome 1

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.


choanal atresia, dog

description: Choanal atresia that occurs in dog.


adult fibrosarcoma

description: A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.


splenic hodgkin lymphoma

description: A rare Hodgkin lymphoma that arises from the spleen.


name: pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


pseudodiastrophic dysplasia

description: Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.


flying phobia

description: An overwhelming, irrational, and persistent fear of traveling in an aircraft.


name: arthrogryposis-hyperkeratosis syndrome, lethal form

description: Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.


hypoparathyroidism, dog

description: Hypoparathyroidism that occurs in dog.


name: progressive bifocal chorioretinal atrophy

description: Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.


benign neoplasm of lymph node

description: A benign neoplasm that involves the lymph node.


keratitis, horse

description: Keratitis that occurs in horse.


name: autosomal recessive congenital ichthyosis 6

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.


name: familial cold autoinflammatory syndrome 4

description: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.


SchC6pf-Schulz-Passarge syndrome

description: A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


hereditary photodermatosis

description: Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


BAFopathy

description: Disorder caused by mutations in the various subunits composing the BAF complex.


name: growth hormone insensitivity with immune dysregulation 1, autosomal recessive


name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


benign neoplasm of major salivary gland

description: A benign neoplasm that involves the major salivary gland.


X-linked recessive ocular albinism

description: X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


name: intellectual disability, autosomal dominant 24

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.


name: autosomal recessive nonsyndromic hearing loss 61

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.


name: adrenocortical hypofunction, chronic primary congenital


name: agammaglobulinemia 2, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.


cattle disease

description: Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.


catamenial pneumothorax

description: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


acute mast cell leukemia

description: A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


aspirin-induced respiratory disease

description: An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


lysosomal storage disease, cattle

description: Lysosomal storage disease that occurs in cattle.


acrocapitofemoral dysplasia

description: Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


name: mitochondrial complex 1 deficiency, nuclear type 18


osteomesopyknosis

description: Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.


chromosome 7 disorder

description: Chromosomal disorder in which chromosome 7 is affected.


gonadal agenesis

description: A congenital disorder characterized by the complete absence of gonadal tissue.


humerus trochlea aplasia

description: Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.


spinal arachnoiditis

description: A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.


Seckel syndrome 2

description: Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


name: retinal dystrophies primarily involving Bruch's membrane

description: A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.


KCNH1 associated disorder

description: Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

description: An osteogenesis imperfecta found in a single South African family.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


syndromic dyslipidemia

description: A inherited lipid metabolism disorder that is part of a larger syndrome.


name: persistent hyperplastic primary vitreous, autosomal recessive

description: Autosomal recessive form of persistent hyperplastic primary vitreous.


name: tall stature-intellectual disability-renal anomalies syndrome


osteoarthritis, sheep

description: Osteoarthritis that occurs in sheep.


bladder dome cancer

description: Cancer of the upper, convex surface of the bladder.


name: familial primary hypomagnesemia with hypocalcuria


name: acute myeloid leukemia, WT1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


mitral valve stenosis, domestic cat

description: Mitral valve stenosis that occurs in domestic cat.


name: Klippel-Feil syndrome 2, autosomal recessive

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.


anophthalmia plus syndrome

description: Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.


fish disease

description: Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).


musculoskeletal system benign neoplasm

description: A benign neoplasm that involves the musculoskeletal system.


name: congenital anomaly of cardiovascular system

description: A disease that has its basis in the disruption of cardiovascular system development.


polyomavirus infectious disease

description: Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


essential iris atrophy

description: Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.


name: DDOST-congenital disorder of glycosylation

description: DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).


otopalatodigital syndrome type 2

description: A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


name: renal tubular dysgenesis due to twin-twin transfusion

description: An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


Treponema infectious disease

description: An disease caused by infection with Treponema.


name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

description: An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.


spinocerebellar ataxia type 13

description: Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.


adult malignant mesenchymoma

description: A malignant mesenchymoma occurring in adults.


autoimmune hemolytic anemia, warm type

description: Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).


name: acute myeloid leukemia, t(10;11)(p11.2;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


hereditary spastic paraplegia 41

description: Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.


name: glycogen storage disease due to aldolase A deficiency

description: Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.


name: polymorphous low grade neuroepithelial tumor of the young

description: A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


scrotum cancer

description: A primary or metastatic malignant neoplasm affecting the scrotum.


segmental odontomaxillary dysplasia

description: Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.


leukodystrophy, American mink

description: Leukodystrophy that occurs in American mink.


name: mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


name: mandibulofacial dysostosis with alopecia

description: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


acral self-healing collodion baby

description: Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.


name: congenital pulmonary airway malformation type 4


Smith-McCort dysplasia

description: Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.


name: autosomal recessive nonsyndromic hearing loss 83

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


bizarre leiomyoma

description: A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.


name: acute myeloid leukemia, monoallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


specific granule deficiency 2

description: Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).


name: mammary gland disorder, non-human animal

description: Mammary gland disorder that occurs in non-human animals.


name: scapuloperoneal spinal muscular atrophy, autosomal recessive


name: spastic ataxia-corneal dystrophy syndrome

description: Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.


inborn disorder of ornithine metabolism

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


Filippi syndrome

description: Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.


name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


horse disease

description: Diseases of domestic and wild horses of the species Equus caballus.


adult Refsum disease due to PEX7 defect

description: An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


IDH3B-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


inherited primary ovarian failure

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


atrial septal defect, koala

description: Atrial septal defect that occurs in koala.


intermittent asthma

description: A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.


name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


name: mitochondrial complex III deficiency, nuclear type


craniofacial-deafness-hand syndrome

description: Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.


amyotrophic lateral sclerosis type 9

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


congenital myasthenic syndrome 4A

description: A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.


name: segmental progressive overgrowth syndrome with fibroadipose hyperplasia

description: A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.


name: disorder of glycosylation, non-human animal

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


name: spondyloepiphyseal dysplasia, Cantu type

description: Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).


name: familial partial lipodystrophy, Kobberling type

description: Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


Bardet-Biedl syndrome 15

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


pentosuria

description: Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.


name: rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

description: A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.


name: Leber hereditary optic neuropathy, non-human animal

description: Leber hereditary optic neuropathy that occurs in non-human animals.


name: ciliary dyskinesia with excessively long cilia


inflammatory disease, non-human animal

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


fungal discitis

description: Discitis caused by infection with fungi.


peeling skin syndrome type A

description: Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.


neuronal ceroid lipofuscinosis 13

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


alopecia areata, domestic cat

description: Alopecia areata that occurs in domestic cat.


non-distal monosomy 10q

description: Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.


name: giant axonal neuropathy, non-human animal

description: Giant axonal neuropathy that occurs in non-human animals.


ocular cystinosis

description: Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.


intradermal nevus

description: A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.


Budd-chiari syndrome, dog

description: Budd-Chiari syndrome that occurs in dog.


dissociative amnesia

description: A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.


dysplasia epiphysealis hemimelica

description: Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.


name: recombinase activating gene 1 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


odonto-onycho-dermal dysplasia

description: A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.


radial hemimelia, non-human animal

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


benign neoplasm of prostate

description: A benign neoplasm that involves the prostate gland.


name: epidermolysis bullosa simplex 5C, with pyloric atresia

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.


peripheral neuropathy, non-human animal

description: Peripheral neuropathy that occurs in non-human animals.


psychiatric disorder, non-human animal

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


name: epidermolysis bullosa simplex 2C, localized


name: sleep disorder, initiating and maintaining sleep


name: lethal congenital contracture syndrome 6

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.


name: developmental and epileptic encephalopathy, 24

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.


FADD-related immunodeficiency

description: A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.


Brugada syndrome 3

description: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.


trichostrongyloidiasis

description: Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.


name: neonatal-onset severe multisystemic autoinflammatory disease with increased IL18


deafness-infertility syndrome

description: Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.


name: multiple acyl-CoA dehydrogenase deficiency, horse

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


Revesz syndrome

description: Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.


FNIP1-associated syndrome

description: Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.


hypotrichosis 7

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


CANOMAD syndrome

description: CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.


lymphoproliferative syndrome 2

description: Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.


chromosome 19 disorder

description: Chromosomal disorder in which chromosome 19 is affected.


name: arthrogryposis multiplex congenita 2, neurogenic type

description: Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.


Mills syndrome

description: A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.


hydrarthrosis

description: Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)


hypomyelinating leukodystrophy 6

description: A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.


familial abdominal aortic aneurysm

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


name: calpain-3-related limb-girdle muscular dystrophy D4


name: palmoplantar keratoderma, nonepidermolytic, focal 1

description: Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.


hereditary spastic paraplegia 15

description: Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.


name: Charcot-Marie-Tooth disease, demyelinating, type 1G

description: A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.


name: titinopathy with congenital contractures

description: A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.


name: Langerhans cell histiocytosis specific to childhood

description: Langerhans cell histiocytosis that occurs during childhood.


name: infantile-onset generalized dyskinesia with orofacial involvement


iliac vein thrombophlebitis

description: A thrombophlebitis that involves the iliac vein.


hereditary spastic paraplegia 5A

description: Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.


familial temporal lobe epilepsy 2

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


bilateral renal agenesis

description: Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.


spondyloperipheral dysplasia

description: A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.


non-neoplastic nevus

description: A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.


EWSR1-negative small round cell tumor

description: A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.


Echovirus infectious disease

description: Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.


atrophic muscular disease

description: A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.


name: leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


name: neonatal jaundice due to ABO incompatibility

description: Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.


neurological pain disorder

description: A nervous system disorder that has pain as a major feature.


benign neoplasm of minor salivary gland

description: A benign neoplasm that involves the minor salivary gland.


dystonia 28, childhood-onset

description: Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.


name: nystagmus, congenital, autosomal recessive


chromosome 5 disorder

description: Chromosomal disorder in which chromosome 5 is affected.


description: X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.


anismus

description: A focal dystonia of the pelvic floor muscles during attempted defecation.


orchitis, non-human animal

description: Orchitis that occurs in non-human animals.


name: intellectual disability, autosomal recessive 3

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.


ACD-related telomere biology disorder

description: A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.


name: furuncular myiasis due to Cordylobia rodhaini


name: acute myeloid leukemia with t(8;21)(q22;q22) translocation


age related macular degeneration 8

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.


name: autosomal recessive nonsyndromic hearing loss 62

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.


complete septate uterus

description: Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.


suppurative uveitis

description: Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.


hereditary neurological disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.


name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

description: The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.


hypertrichosis, cattle

description: Hypertrichosis that occurs in cattle.


microphthalmia, cattle

description: Microphthalmia that occurs in cattle.


name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

description: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.


cardiac anomalies-heterotaxy syndrome

description: Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.


idiopathic CD4 lymphocytopenia

description: A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.


name: deficiency of coenzyme q cytochrome c reductase


preeclampsia/eclampsia 5

description: Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.


name: hereditary sensory neuropathy-deafness-dementia syndrome

description: A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


name: pestivirus infectious disease, non-human animal

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


name: ectodermal dysplasia/skin fragility syndrome, dog

description: Ectodermal dysplasia/skin fragility syndrome that occurs in dog.


generalized peeling skin syndrome

description: Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.


Pasteurella hemorrhagic septicemia

description: Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.


name: spondylocostal dysostosis 1, autosomal recessive


seizures, benign familial neonatal, 2

description: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.


name: autosomal recessive nonsyndromic hearing loss 7

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


name: microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


name: alopecia - contractures - dwarfism - intellectual disability syndrome

description: Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.


name: rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies


dysspondyloenchondromatosis

description: Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.


name: autosomal recessive congenital ichthyosis 5

description: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.


name: post-COVID-19 disorder, non-human animal

description: Post-Covid-19 disorder that occurs in non-human animals.


atypical lichen myxedematosus

description: Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.


bullous pemphigoid, Rhesus monkey

description: Bullous pemphigoid that occurs in Rhesus monkey.


odontomicronychial dysplasia

description: Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.


anotia, cattle

description: Anotia that occurs in cattle.


name: X-linked intellectual disability, Cilliers type

description: X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).


name: autosomal dominant distal renal tubular acidosis

description: Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


enamel caries

description: A dental caries that involves the enamel.


Brugada syndrome 9

description: Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.


vulvar liposarcoma

description: A rare malignant adipose tissue neoplasm of the vulva.


name: generalized epilepsy with febrile seizures plus, type 1


hypertrichosis of eyelid

description: A hypertrichosis (disease) that involves the eyelid.


name: combined oxidative phosphorylation defect type 7

description: Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.


name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency

description: Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.


neoplastic disease or syndrome

description: Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


name: acute myeloid leukemia, inv(16)(p13.3;q24.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)


malignant olfactory nerve neoplasm

description: A primary or metastatic malignant neoplasm affecting the olfactory nerve.


name: acute myeloid leukemia and myelodysplastic syndromes related to radiation

description: Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.


name: qualitative or quantitative defects of selenoprotein N1


name: blepharophimosis - intellectual disability syndrome, SBBYS type

description: Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.


platelet-type bleeding disorder 18

description: Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.


name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


name: intellectual developmental disorder, autosomal recessive 76


PHAVER syndrome

description: Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.


name: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

description: This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.


TPM3-related myopathy

description: TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.


name: ectodermal dysplasia/skin fragility syndrome, non-human animal

description: Ectodermal dysplasia/skin fragility syndrome that occurs in non-human animals.


neonatal/infantile epilepsy syndrome

description: An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


name: hydrocephalus, nonsyndromic, autosomal recessive 2

description: Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.


juvenile dermatitis herpetiformis

description: Dermatitis herpetiformis in children


name: microcephaly 1, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.


name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


name: low grade fibromyxoid sarcoma with giant collagen rosettes

description: A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.


endocardial fibroelastosis, cattle

description: Endocardial fibroelastosis that occurs in cattle.


Liddle syndrome 2

description: Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.


giant axonal neuropathy 1

description: Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.


coxopodopatellar syndrome

description: Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.


name: porphyria cutanea tarda, non-human animal

description: Porphyria cutanea tarda that occurs in non-human animals.


name: muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15


Leber congenital amaurosis 2

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.


TREX1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.


childhood cerebellar neoplasm

description: A neoplasm that affects the cerebellum and occurs during childhood.


hereditary neutrophilia

description: A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.


name: neurodevelopmental disorder with spasticity and poor growth


name: neurological muscular channelopathy due to a genetic sodium channel defect


ulcer disease, non-human animal

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


non-psychogenic polydipsia

description: A form of primary polydipsia not caused by underlying psychiatric symptoms.


name: silver-Russell syndrome due to 11p15 microduplication


name: intellectual developmental disorder, x-linked 113


croup

description: Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.


lymphangiosarcoma, non-human animal

description: Lymphangiosarcoma that occurs in non-human animals.


Frank-Ter Haar syndrome

description: A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.


osteochondrodysplasia, non-human animal

description: Osteochondrodysplasia that occurs in non-human animals.


sensory system cancer

description: A malignant neoplasm involving the sensory system


X-linked immunoneurologic disorder

description: X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.


persistent truncus arteriosus, alpaca

description: Persistent truncus arteriosus that occurs in alpaca.


dysautonomia, non-human animal

description: Dysautonomia that occurs in non-human animals.


acute sensory ataxic neuropathy

description: Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.


chromosome 15 disorder

description: Chromosomal disorder in which chromosome 15 is affected.


name: combined oxidative phosphorylation deficiency 41


name: X-linked severe syndromic thoracic aortic aneurysm and dissection


name: autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


isolated microphthalmia 1

description: A microphthalmia that has material basis in variation in the chromosomal region 14q32.


name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition


name: combined immunodeficiency due to MALT1 deficiency

description: Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.


name: PLIN1-related familial partial lipodystrophy


Peters anomaly, non-human animal

description: Peters anomaly that occurs in non-human animals.


name: macular dystrophy with central cone involvement


name: congenital stationary night blindness 1F

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.


name: EPHB4-associated vascular malformation spectrum

description: Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.


cone-rod dystrophy 16

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.


name: male infertility due to acephalic spermatozoa


retinitis pigmentosa 74

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.


name: congenital disorder of glycosylation, type IIbb


Bardet-Biedl syndrome 12

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.


chromosome 1 disorder

description: Chromosomal disorder in which chromosome 1 is affected.


name: symptomatic form of hemophilia B in female carriers

description: A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.


cataract 34 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.


benign neoplasm of neck

description: A benign neoplasm that involves the neck.


integumentary system disorder

description: A disease involving the integumental system.


name: leukemia, chronic lymphocytic, susceptibility to, 2


male urethral cancer

description: A cancer involving a male urethra.


odontohypophosphatasia

description: Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


name: lymphoid system disorder, non-human animal

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


name: acute myeloid leukemia, t(3;3)(q21.3;q26.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


name: partial deletion of the long arm of chromosome 6

description: Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. 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 6q deletion include developmental delay, intellectual disability, 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.


RPE65-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.


blepharocheilodontic syndrome 1

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.


name: complex cortical dysplasia with other brain malformations 7

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.


Cowden syndrome 2

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


familial vesicoureteral reflux

description: Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.


NMNAT1-related retinopathy

description: A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.


name: mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


name: neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


persistent truncus arteriosus, sheep

description: Persistent truncus arteriosus that occurs in sheep.


type 1 interferonopathy of childhood

description: A type 1 interferonopathy that occurs during childhood.


name: intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

description: Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.


name: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

description: Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.


malignant Sertoli-Leydig cell tumor

description: A malignant form of Sertoli-leydig cell tumor.


name: autosomal dominant nonsyndromic hearing loss 9

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


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.


factor XI deficiency, non-human animal

description: Factor XI deficiency that occurs in non-human animals.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1

description: Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.


hyperlipoproteinemia type V

description: A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.


glioma susceptibility

description: An inherited susceptibility or predisposition to developing glioma.


spermatic cord cancer

description: A malignant neoplasm involving the spermatic cord.


name: idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


pseudohypoaldosteronism type 2C

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.


patent ductus arteriosus, chicken

description: Patent ductus arteriosus that occurs in chicken.


sphenocavernous meningioma

description: A meningioma that affects the sphenocavernous region.


Senior-Loken syndrome 6

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


name: acute myeloid leukemia, MLL gene rearrangement

description: Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)


name: acquired aneurysmal subarachnoid hemorrhage

description: Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.


antibody mediated epilepsy

description: An immune epilepsy where the underlying cause is antibody mediated.


pachyonychia congenita 1

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.


atrial fibrillation, familial, 7

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.


Fontaine progeroid syndrome

description: A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.


Usher syndrome, type 1D/F

description: Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.


name: micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


allescheriosis

description: A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

description: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


benign idiopathic neonatal seizures

description: A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.


otodental syndrome

description: Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.


name: benign paroxysmal tonic upgaze of childhood with ataxia

description: Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.


name: multifocal pattern dystrophy simulating fundus flavimaculatus

description: Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.


precancerous condition

description: A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.


ribose-5-P isomerase deficiency

description: Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.


idiopathic disease, non-human animal

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


name: type II complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.


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

description: Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


Desbuquois dysplasia 2

description: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.


porcine leukemia

description: Leukemia that occurs in a pig.


name: cleft palate-congenital heart defect-intellectual disability syndrome


hypomyelinating leukodystrophy 10

description: Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.


name: neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


trichomonal vulvovaginitis

description: An vulvovaginitis caused by infection with Trichomonas vaginalis.


name: aneurysm or dilatation of ascending aorta


ravine syndrome

description: Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.


name: combined immunodeficiency with faciooculoskeletal anomalies

description: Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).


name: disorder of visual system, non-human animal

description: Disorder of visual system that occurs in non-human animals.


van der Woude syndrome 1

description: Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.


Flynn-Aird syndrome

description: Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.


late-onset familial hypoaldosteronism

description: A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.


paraurethral gland cancer

description: A malignant neoplasm involving the paraurethral gland.


diffuse lipomatosis

description: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.


name: ventricular fibrillation, paroxysmal familial, type 1


name: spondylocostal dysostosis 3, autosomal recessive

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


name: hyper-IgE recurrent infection syndrome 4, autosomal recessive


name: follicular lymphoma, susceptibility to, 1


chondrodysplasia Blomstrand type

description: Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.


name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


name: mitochondrial complex 1 deficiency, nuclear type 12


acral dystrophic epidermolysis bullosa

description: Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.


iminoglycinuria

description: A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.


tetrasomy

description: A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.


exostoses, multiple, type 2

description: This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.


name: intellectual disability, autosomal recessive 61

description: An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.


name: partial trisomy/tetrasomy of chromosome 9


achromatopsia 3

description: Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.


name: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


pili gemini

description: Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.


acquired factor XI deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


Charcot-Marie-Tooth disease type 1E

description: A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.


name: spondyloepimetaphyseal dysplasia, matrilin-3 type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.


persistent Mullerian duct syndrome, dog

description: Persistent Mullerian duct syndrome that occurs in dog.


AKT3-related overgrowth spectrum

description: Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.


childhood choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.


chemotherapy-induced hypertension

description: A form of hypertension that occurs as a direct result of chemotherapy treatment


age-related clonal hematopoiesis

description: A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.


septicemic plague

description: A plague in which the bacteria have entered the bloodstream.


name: TELO2-related intellectual disability-neurodevelopmental disorder


Hogue-Janssens syndrome 1

description: An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.


atherosclerosis, Japanese quail

description: Atherosclerosis that occurs in Japanese quail.


mosaic trisomy 4

description: Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.


primary organ-specific lymphoma

description: A header term comprising lymphomas classified based on anatomic location.


Nidovirales infectious disease

description: Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.


epithelioid cell nevus

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


bullous pemphigoid, non-human animal

description: Bullous pemphigoid that occurs in non-human animals.


name: transposition of the great arteries, dextro-looped

description: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.


kuru

description: A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)


immunodeficiency 92

description: An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.


chronic frontal sinusitis

description: Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


chromosome 1q21.1 duplication syndrome

description: Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.


benign neoplasm of iris

description: A benign neoplasm that involves the iris.


Clostridium infectious disease

description: Infections with bacteria of the genus clostridium.


neurocristopathy, non-human animal

description: Neurocristopathy that occurs in non-human animals.


name: sensorineural hearing loss-early graying-essential tremor syndrome

description: Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor.


RPGR-related retinopathy

description: A retinopathy caused by a variant in the X-linked gene, RPGR.


name: STT3A-congenital disorder of glycosylation

description: STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).


name: congenital patent ductus arteriosus aneurysm

description: Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.


hereditary angioedema type 2

description: Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: Charcot-Marie-Tooth disease recessive intermediate C

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.


metagonimiasis

description: An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


name: persistent Mullerian duct syndrome, goat

description: Persistent Mullerian duct syndrome that occurs in goat.


cardiomyopathy, hedgehogs

description: Cardiomyopathy that occurs in hedgehogs.


epidermolysis bullosa simplex

description: Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.


ectrodactyly-polydactyly syndrome

description: A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.


name: autosomal recessive nonsyndromic hearing loss 29

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.


benign neoplasm of penis

description: A benign neoplasm that involves the penis.


name: inborn disorder of the gamma-glutamyl cycle


name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


name: mitochondrial complex III deficiency nuclear type 5

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.


description: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.


name: agammaglobulinemia 7, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.


disorder of GPI anchor biosynthesis

description: A disease that has its basis in the disruption of GPI anchor biosynthetic process.


name: mitochondrial complex 1 deficiency, nuclear type 33


name: ataxia - deafness - intellectual disability syndrome

description: This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.


name: rapidly progressive primary central nervous system vasculitis

description: A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.


name: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


trachea sarcoma

description: A rare malignant soft tissue neoplasm that arises from the trachea.


holoprosencephaly, pig

description: Holoprosencephaly that occurs in pig.


joint laxity, familial

description: A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.


cleft palate-lateral synechia syndrome

description: Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.


retinal melanoma

description: A melanoma affecting the retinal portion of the eye. --2003


name: dyskeratosis congenita, autosomal recessive 2

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.


name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy


pulmonary hypertension, cattle

description: Pulmonary hypertension that occurs in cattle.


acquired epidermolysis bullosa

description: Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.


hypomyelinating leukodystrophy 5

description: Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.