orofaciodigital syndrome XI

description: Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.


mitochondrial complex I deficiency

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

description: A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.


name: inborn disorder of purine or pyrimidine metabolism


acrodermatitis

description: An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.


unilateral focal polymicrogyria

description: Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.


retinitis pigmentosa 72

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.


osteoarthritis, dog

description: Osteoarthritis that occurs in dog.


name: microcephaly 30, primary, autosomal recessive


name: localized dystrophic epidermolysis bullosa

description: A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.


seminoma

description: A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.


congenital myasthenic syndrome 2C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


gynatresia

description: A congenital or acquired occlusion of an opening in any part of the female genital tract.


Charcot-Marie-Tooth disease type 4D

description: Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.


dermatophytosis of scalp or beard

description: Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.


Martsolf syndrome 1

description: This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.


leukemia, feline

description: A neoplastic disease of cats frequently associated with feline leukemia virus infection.


name: metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

description: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.


haemonchiasis

description: Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.


central bilateral macrogyria

description: Central bilateral macrogyria is a neuronal migration disorder characterized by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.


name: secondary non-traumatic avascular necrosis


name: qualitative or quantitative defects of protein ZASP


ureter benign neoplasm

description: Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.


steroid lipomatosis

description: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.


oculogyric crisis

description: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.


tooth agenesis, selective, 9

description: Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.


name: renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies


name: autosomal recessive congenital ichthyosis 1

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.


name: hypertrophic cardiomyopathy, Arabian camel

description: Hypertrophic cardiomyopathy that occurs in Arabian camel.


subcutaneous mycosis

description: A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.


pseudoprogeria syndrome

description: Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.


reactive thrombocytosis

description: A thrombocytosis caused by an underlying condition, such as an infection.


aplasia cutis-myopia syndrome

description: Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.


Norman-Roberts syndrome

description: Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.


gangliosidosis, cattle

description: Gangliosidosis that occurs in cattle.


name: language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


diabetic cataract, non-human animal

description: Diabetic cataract that occurs in non-human animals.


stiff skin syndrome, dog

description: Stiff skin syndrome that occurs in dog.


Malan overgrowth syndrome

description: A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.


name: partial deletion of the long arm of chromosome 2

description: Chromosome 2q 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 2. 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 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


SF3B4-related acrofacial dysostosis

description: A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.


name: intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

description: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.


name: desmoid tumor caused by somatic mutation


name: aldosterone-producing adenoma with seizures and neurological abnormalities

description: An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.


20p12.3 microdeletion syndrome

description: 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.


intellectual disability, Wolff type

description: Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.


name: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


clivus meningioma

description: A meningioma that affects the clivus.


name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails


name: mitochondrial membrane transport disorder


abdominal ectopic pregnancy

description: Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.


congenital right-sided heart lesions

description: Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.


neuroacanthocytosis

description: Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.


name: peroxisome biogenesis disorder 2A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome.


name: charcot-marie-tooth disease, axonal, type 2DD


tetanus neonatorum

description: A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.


name: intellectual developmental disorder, X-linked 112


Oliver syndrome

description: Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.


glossopharyngeal motor neuropathy

description: Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)


name: orotic aciduria without megaloblastic anemia


name: rhizomelic chondrodysplasia punctata type 3

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.


chromosome 14q11-q22 deletion syndrome

description: 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.


reticulohistiocytic granuloma

description: A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003


meningothelial meningioma

description: A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.


name: mitochondrial complex 4 deficiency, nuclear type 11


hyalohyphomycosis

description: An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.


Chediak-Higashi syndrome, domestic cat

description: Chediak-Higashi syndrome that occurs in domestic cat.


vulvar disease

description: A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.


name: acyl-CoA binding domain containing protein 5 deficiency

description: A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.


autosomal agammaglobulinemia

description: Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.


endometrial hyperplasia without atypia

description: Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.


name: intellectual developmental disorder with cardiac defects and dysmorphic facies

description: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.


latent early syphilis

description: Latent syphilis when infection was acquired less than twelve months previously.


osteitis fibrosa

description: A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.


diplegia of upper limb

description: Evidence of diplegia of the upper limbs.


name: erythrokeratodermia variabilis et progressiva 6


name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease


logopenic progressive aphasia

description: Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.


name: hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes


name: familial pulmonary arterial hypertension leucopenia and atrial septal defect


name: xerosis and growth failure with immune and pulmonary dysfunction syndrome


neurofibromatosis-Noonan syndrome

description: A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).


name: partial deletion of the long arm of chromosome 4

description: Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


name: epiphyseal dysplasia of femoral head, myopia, and deafness


chromosome 2q32-q33 deletion syndrome

description: 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.


name: autosomal recessive nonsyndromic hearing loss 9

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


osteogenesis imperfecta type 8

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.


cataract 13 with adult I phenotype

description: A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.


variable age onset epilepsy

description: An epilepsy syndrome that has an onset during variable ages and stages of life.


MRCS syndrome

description: MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.


lattice corneal dystrophy type I

description: Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.


gonococcal conjunctivitis

description: Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.


rete ovarii neoplasm

description: A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.


canine soft tissue sarcoma

description: Soft tissue sarcoma occurring in a dog.


rhinoscleroma

description: A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.


name: trigonocephaly-bifid nose-acral anomalies syndrome

description: Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.


canine mammary adenoma

description: An adenoma arising from the mammary gland of a dog.


endocardial fibroelastosis, tiger

description: Endocardial fibroelastosis that occurs in tiger.


sarcomatosis

description: The occurrence of several sarcomas in different anatomic locations.


name: autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome


name: developmental and epileptic encephalopathy, 38

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.


epididymo-orchitis

description: A disorder involving inflammation of the epididymis and testes.


name: palmoplantar keratoderma-spastic paralysis syndrome


name: ectodermal dysplasia 15, hypohidrotic/hair type


name: intellectual disability, autosomal recessive 30


oculodental syndrome, Rutherfurd type

description: Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.


name: deafness, sensorineural, with peripheral neuropathy and arterial disease


name: disorder of neutral amino acid transport

description: An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.


paraneoplastic renal syndrome

description: Paraneoplastic syndrome that involves the renal system.


grade I lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.


name: hidrotic ectodermal dysplasia, Halal type

description: Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.


metachronous kidney Wilms' tumor

description: Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.


name: Charcot-Marie-Tooth disease, axonal, Type 2HH


name: disorder of beta and omega amino acid metabolism


mosaic trisomy 12

description: Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.


name: leukoencephalopathy, progressive, infantile-onset, with or without deafness


name: pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


cervical atypical polypoid adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.


parasympathetic paraganglioma

description: A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.


inferior myocardial infarction

description: Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.


name: Ullrich congenital muscular dystrophy 1C


name: gingival fibromatosis-facial dysmorphism syndrome

description: Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.


name: arteritis, familial granulomatous, with juvenile polyarthritis


tendinosis

description: The chronic degeneration of a tendon without inflammation.


cardiomyopathy, salmonids

description: Cardiomyopathy that occurs in salmonids.


inherited pseudohypoaldosteronism

description: A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.


name: sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth


subvalvular aortic stenosis, dog

description: Subvalvular aortic stenosis that occurs in dog.


name: microcephaly 12, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.


name: canine teeth, absence of upper permanent


name: generalized epilepsy-paroxysmal dyskinesia syndrome

description: Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.


name: cleft lip and palate malrotation cardiopathy


anomaly of the tricuspid valve chordae

description: Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.


PEHO syndrome

description: PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.


alcohol amnestic disorder

description: A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)


name: myasthenic syndrome, congenital, 24, presynaptic


name: moderate multiminicore disease with hand involvement


name: idiopathic non-lupus full-house nephropathy


mosaic trisomy 6

description: Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).


ADULT syndrome

description: ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.


name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome

description: A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.


urolithiasis, llama

description: Urolithiasis that occurs in llama.


name: congenital unilateral pulmonary hypoplasia


maternal phenylketonuria

description: Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.


name: severe congenital hypochromic anemia with ringed sideroblasts

description: STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.


Crane-Heise syndrome

description: A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.


glossopharyngeal neuralgia

description: Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.


name: pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities


name: pituitary hormone deficiency, combined or isolated, 8


thyroiditis, dog

description: Thyroiditis that occurs in dog.


KID syndrome

description: Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.


name: cerebellar ataxia-ectodermal dysplasia syndrome

description: Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.


Pendred syndrome

description: Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.


name: neonatal-onset developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


ventricular septal defect, horse

description: Ventricular septal defect that occurs in horse.


name: non-classic congenital adrenal hyperplasia

description: A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.


pyometritis

description: Inflammation of uterine musculature associated with pus in the uterine cavity.


name: severe combined immunodeficiency due to CARMIL2 deficiency


name: IgG4-related submandibular gland disease

description: A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.


Li-Fraumeni syndrome

description: A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).


Ludwig's angina

description: Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)


endomyometritis

description: An inflammation of the endometrium and the myometrium.


baylisascariasis

description: An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.


hypercalcemia, infantile

description: A hypercalcemia disease that occurs between 28 days to one year of life.


acquired skeletal muscle disease

description: An instance of skeletal muscle disease that is acquired during the lifetime of the individual.


name: acute myeloid leukemia, biallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)


name: cerebellar ataxia, benign, with thermoanalgesia


polymyositis, dog

description: Polymyositis that occurs in dog.


ring chromosome 1

description: Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.


name: MELAS syndrome caused by mutation in MTTS2

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.


pyknoachondrogenesis

description: Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.


feline histiocytic sarcoma

description: Histiocytic sarcoma occurring in a cat.


cryptorchidism, Arabian camel

description: Cryptorchidism that occurs in Arabian camel.


cerebellopontine angle meningioma

description: A meningioma that affects the cerebellopontine angle.


name: epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive


hypogonadism, dog

description: Hypogonadism that occurs in dog.


familial ossifying fibroma

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


retinal cell neoplasm

description: A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.


name: monoclonal gammopathy of uncertain significance

description: A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.


urea cycle disorder

description: A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.


functioning endocrine neoplasm

description: A hormone producing endocrine neoplasm, associated with a hormonal syndrome.


thymic neuroendocrine tumor

description: Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.


name: autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation


name: absence of fingerprints-congenital milia syndrome

description: Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.


name: cone dystrophy with supernormal rod response

description: Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.


name: primary familial polycythemia due to EPO receptor mutation

description: Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.


orgasm-induced seizures

description: Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.


acute myeloid leukemia, t(3;5)(q25;q34)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)


name: gamma-amino butyric acid metabolism disorder

description: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.


name: generalized peeling skin syndrome type C


name: mixed epithelioid and spindle cell melanoma

description: A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.


abnormal mineralization disorder

description: A skeletal dysplasia where osteoid becomes calcified.


name: immunodeficiency 91 and hyperinflammation

description: An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.


pontine tegmental cap dysplasia

description: Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.


pemphigus, domestic cat

description: Pemphigus that occurs in domestic cat.


congenital lactase deficiency

description: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.


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


patterned macular dystrophy 3

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.


name: polydactyly of an index finger, bilateral


Charcot-Marie-Tooth disease type 4

description: Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.


name: acute myeloid leukemia with 11q23 abnormalities

description: An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.


name: Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly


name: macrocephaly, dysmorphic facies, and psychomotor retardation


atypical coarctation of aorta

description: Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).


name: autosomal dominant nonsyndromic hearing loss 67

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.


name: urea cycle disorder or inherited hyperammonemia

description: A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).


name: autosomal recessive congenital ichthyosis 7

description: An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.


name: familial hemophagocytic lymphohistiocytosis type 1

description: Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.


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

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


description: Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.


microcephaly, sheep

description: Microcephaly that occurs in sheep.


fallopian tube endometriosis

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


familial isolated trichomegaly

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


Donnai-Barrow syndrome

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


myocardial rupture

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


exstrophy-epispadias complex

description: A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.


name: glycosylphosphatidylinositol biosynthesis defect 18


epithelial recurrent erosion dystrophy

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


cleft palate, domestic cat

description: Cleft palate that occurs in domestic cat.


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


tibial hemimelia, non-human animal

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


cluster headache, familial

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


pasteurellosis

description: Infections with bacteria of the genus pasteurella.


radial hemimelia, domestic cat

description: Radial hemimelia that occurs in domestic cat.


name: microcephalic osteodysplastic primordial dwarfism types I and III

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


name: leukemia, chronic lymphocytic, susceptibility to, 4


name: inosine phosphorylase deficiency, immune defect due to


submandibular adenitis

description: Inflammation of the submandibular lymph nodes.


rhabdomyolysis-myalgia syndrome

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


isolated encephalocele

description: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.


name: multiple system atrophy, parkinsonian type

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


COACH syndrome

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


polydactyly-syndactyly-triphalangism

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


name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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


name: neurodevelopmental disorder with seizures and speech and walking impairment


benign neoplasm of tongue

description: A benign neoplasm that involves the tongue.


name: spondylocostal dysostosis 4, autosomal recessive

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


name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation


name: microcephalic osteodysplastic primordial dwarfism type I

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


name: brainstem intraparenchymal clear cell meningioma

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


hypophosphatasia, non-human animal

description: Hypophosphatasia that occurs in non-human animals.


Crigler-Najjar syndrome type 1

description: Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).


psoriasis 2

description: Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.


supraglottis cancer

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


Joubert syndrome 5

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


rete testis neoplasm

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


idiopathic congenital hypothyroidism

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


ACD-related long telomere syndrome

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


name: multiple acyl-CoA dehydrogenase deficiency, domestic cat

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


eosinophilia, familial

description: Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.


Meier-Gorlin syndrome 1

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


otofaciocervical syndrome 2

description: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.


name: progressive supranuclear palsy-parkinsonism syndrome

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


name: severe early-childhood-onset retinal dystrophy

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


name: neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities


name: syndromic X-linked intellectual disability Najm type

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


lumbosacral plexus lesion

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


name: MPI-congenital disorder of glycosylation

description: MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).


name: osteosclerosis with ichthyosis and fractures


name: microphthalmia with cyst, bilateral facial clefts, and limb anomalies


name: familial cold autoinflammatory syndrome 1

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


name: encephalopathy due to mitochondrial and peroxisomal fission defect


delta-beta-thalassemia

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


name: skin appendage disorder, non-human animal

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


low anorectal malformation

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


triglyceride storage disease

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


isolated filum lipoma

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


pityriasis alba

description: A prevalent and benign dermatological condition that predominantly affects children and adolescents. The name "pityriasis alba" derives from its appearance, where "pityriasis" denotes the fine scales and "alba" signifies the pale color (hypopigmentation).


name: hypothalamic hamartomas with gelastic seizures

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


name: MELAS syndrome caused by mutation in MTTK

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


epidermolysis bullosa, non-human animal

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


name: secondary progressive multiple sclerosis

description: A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.


spinocerebellar ataxia type 8

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


hallucinogen abuse

description: A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.


name: olivopontocerebellar atrophy, domestic cat

description: Olivopontocerebellar atrophy that occurs in domestic cat.


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

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


frontometaphyseal dysplasia 1

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


name: rhizomelic limb shortening with dysmorphic features


anterior compartment of tibia syndrome

description: Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.


anemia due to chronic disorder

description: Anemia due to a disorder that is persistent or long-standing in nature.


methimazole embryofetopathy

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


malignant neoplasm of acoustic nerve

description: A malignant neoplasm involving the vestibulocochlear nerve.


name: exocrine pancreatic insufficiency, non-human animal

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


name: mitochondrial DNA depletion syndrome 16 (hepatic type)


dilated cardiomyopathy, turkey

description: Dilated cardiomyopathy that occurs in turkey.


AA amyloidosis, red fox

description: AA amyloidosis that occurs in red fox.


name: hypercholesterolemia, autosomal dominant, type B

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


name: enamel hypoplasia, cataracts, and aqueductal stenosis


alkaptonuria, domestic cat

description: Alkaptonuria that occurs in domestic cat.


name: hereditary site-specific ovarian cancer syndrome

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


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


Waardenburg syndrome type 2D

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


conduction system disorder

description: A disease involving the conducting system of heart.


name: classic complement early component deficiency

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


discrete papular lichen myxedematosus

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


pontocerebellar hypoplasia type 8

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


Moraxellaceae infectious disease

description: Infections with bacteria of the family moraxellaceae.


name: vertebral, cardiac, tracheoesophageal, renal, and limb defects


familial primary hyperparathyroidism

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


name: intellectual disability, autosomal dominant 5

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


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


name: developmental and epileptic encephalopathy 96


acquired partial lipodystrophy

description: A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.


amaurosis-hypertrichosis syndrome

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


Kleefstra syndrome 1

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


tuberous sclerosis 1

description: Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).


brachydactyly-long thumb syndrome

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


pituitary gland infarction

description: Ischemic necrosis of the pituitary gland.


lymphatic system cancer

description: A malignant neoplasm involving the lymphatic part of lymphoid system


spermatogenic failure 14

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


name: facial dysmorphism-shawl scrotum-joint laxity syndrome

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


name: ventricular septal defect, non-human animal

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


name: congenital bilateral aplasia of vas deferens from CFTR mutation

description: An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.


name: cerebral palsy, ataxic, autosomal recessive


primary ciliary dyskinesia 29

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


epilepsy, horse

description: Epilepsy that occurs in horse.


benign neoplasm of glottis

description: A benign neoplasm that involves the glottis.


histiocytoma, Angiomatoid fibrous

description: A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.


Fanconi anemia complementation group V

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


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


Salla disease

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


name: Hennekam lymphangiectasia-lymphedema syndrome 2

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


AA amyloidosis, northern tree shrew

description: AA amyloidosis that occurs in northern tree shrew.


description: An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.


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

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


plasma protein metabolism disease

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


name: developmental and epileptic encephalopathy, 39

description: A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.


monosomy

description: A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.


dystonia 25

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


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


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


name: iridogoniodysgenesis and skeletal anomalies


intellectual disability, X-linked 58

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


name: malignant histiocytosis, non-human animal

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


laryngeal sarcoma

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


Caliciviridae infectious disease

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


hereditary angioedema

description: Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.


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

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


amyloidosis bronchopulmonary

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


cervix disorder

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


amyotrophic lateral sclerosis type 23

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


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


name: spondyloepimetaphyseal dysplasia, Genevieve type

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


spinal cord injury

description: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).


name: digitotalar dysmorphism; ulnar drift, hereditary


Coats plus syndrome

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


name: congenital hypothyroidism due to maternal intake of antithyroid drugs


name: salivary substance, Clostridium botulinum type


hepatitis, viral, animal

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


Ballard syndrome

description: Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.


distal myopathy, Welander type

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


name: spondylometaphyseal dysplasia, Kozlowski type

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


suppurative thyroiditis

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


name: indeterminate sex and/or pseudohermaphroditism


retinitis pigmentosa 25

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


name: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

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


name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia


spinocerebellar ataxia type 23

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


tinea manuum

description: A dermatophytosis that involves the hands.


alpha-2-plasmin inhibitor deficiency

description: Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.


syringoma

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


pulmonary hypertension, primary, 1

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


severe Canavan disease

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


premature ovarian failure 2B

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


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


description: Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.


triploidy, tench

description: Triploidy that occurs in tench.


name: qualitative or quantitative defects of filamin C


name: hereditary sclerosing poikiloderma with tendon and pulmonary involvement

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


name: neuronopathy, distal hereditary motor, type 2A

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


name: spondylometaphyseal dysplasia, pagnamenta type


name: dermatophytosis of groin and perianal area

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


name: antigen defined by monoclonal antibody Aj9


name: partial duplication of the short arm of chromosome 1


name: dyskeratosis congenita and related telomere biology disorder

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


Charcot-Marie-Tooth disease type 4B3

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


conventional lipoma

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


name: intellectual developmental disorder with short stature and variable skeletal anomalies


Karsch-Neugebauer syndrome

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


congenital factor V deficiency

description: Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.


name: intellectual disability, autosomal recessive 1

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


name: polyposis, intestinal, scattered and discrete


cone-rod dystrophy 19

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


name: autosomal dominant nonsyndromic hearing loss 47

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


Kapur-Toriello syndrome

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


drug-induced localized lipodystrophy

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


hereditary spastic paraplegia 49

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


name: pterin-4 alpha-carbinolamine dehydratase 1 deficiency

description: Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.


BRCA1-related cancer predisposition

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


name: bilateral parasagittal parieto-occipital polymicrogyria


acrocephalopolydactyly

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


blastoma

description: A malignant neoplasm composed of undifferentiated cells.


name: acute myeloid leukemia, KRAS gene mutation

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


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


sclerosing liposarcoma

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


name: malignant Sertoli-Leydig cell tumor of ovary

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


late-onset retinal degeneration

description: Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.


metaphyseal acroscyphodysplasia

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


granulomatous hypophysitis

description: Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.


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


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 1


bladder trigone cancer

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


aortic arch defects

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


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

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


visual epilepsy

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


pyloric stenosis, non-human animal

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


sclerosteosis

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


glioma susceptibility 2

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


name: congenital pulmonary venous return anomaly

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


craniosynostosis, Philadelphia type

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


name: developmental and speech delay due to SOX5 deficiency

description: A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).


name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia


exogenous ochronosis

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


name: autosomal recessive spastic paraplegia type 70

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


hemochromatosis type 2

description: Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


MAN2B2 deficiency

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


Char syndrome

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


osteochondrosis, domestic cat

description: Osteochondrosis that occurs in domestic cat.


megacolon, cattle

description: Megacolon that occurs in cattle.


name: hereditary inclusion body myopathy type 4

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