name: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

description: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.


name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2

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


name: myopathy with giant abnormal mitochondria


ventricular septal defect, alpaca

description: Ventricular septal defect that occurs in alpaca.


name: microcephaly with or without short stature

description: Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.


episodic ataxia type 1

description: Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.


Mansonella ozzardi infection

description: An infection that is caused by the organism Mansonella ozzardi.


methamphetamine dependence

description: A drug dependence that is a psychological dependency on the regular use of methamphetamine.


chorea, benign familial

description: Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.


name: obesity due to melanocortin 4 receptor deficiency

description: Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.


uncombable hair syndrome 3

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


inferolateral myocardial infarct

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.


parasitic eye infection

description: Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.


name: structural brain anomalies with impaired intellectual development and craniosynostosis


name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type


SATB2 associated disorder

description: A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.


description: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.


name: TH-deficient infantile parkinsonism and motor delay

description: A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).


name: Seckel like syndrome majoor-krakauer type


name: neurodevelopmental disorder with poor language and loss of hand skills


glioependymal/ependymal cyst

description: Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).


viral meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.


central nervous system leiomyoma

description: A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.


adenosarcoma

description: A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.


mucopolysaccharidosis

description: A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.


dependent personality disorder

description: A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.


name: tremor of intention, ataxia, and lipofuscinosis


trichostasis spinulosa

description: Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.


mosaic trisomy 14

description: Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.


chorea-acanthocytosis

description: Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.


name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


Peters anomaly, snow leopard

description: Peters anomaly that occurs in snow leopard.


name: age-related macular degeneration, non-human animal

description: Age-related macular degeneration that occurs in non-human animals.


bladder lymphoma

description: A lymphoma that involves the urinary bladder.


disorder of protein N-glycosylation

description: A disease that has its basis in the disruption of protein N-linked glycosylation.


glycogen storage disease IXb

description: A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.


partial lipodystrophy

description: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


vector-borne disease

description: An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.


dengue disease

description: Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).


glycogen storage disease III

description: Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.


mosaic trisomy 20

description: Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.


name: spondylometaphyseal dysplasia, Golden type

description: Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.


name: neurodevelopmental disorder with hypotonia and characteristic brain abnormalities


diprosopus, sheep

description: Diprosopus that occurs in sheep.


Wieacker-Wolff syndrome

description: A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.


axial mesodermal dysplasia spectrum

description: Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.


avoidant personality disorder

description: A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.


Evans syndrome, non-human animal

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


name: agammaglobulinemia, autosomal recessive, due to BOB1 deficiency

description: Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.


branchial arch disease

description: A disease that involves the pharyngeal system development.


name: epidermolysis bullosa simplex due to plakophilin deficiency

description: Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.


diffuse cutaneous systemic sclerosis

description: Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).


name: maternal uniparental disomy of chromosome 1

description: Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


brittle cornea syndrome 1

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.


name: respiratory papillomatosis, juvenile recurrent, congenital


name: T-B+ severe combined immunodeficiency due to CD45 deficiency


specific language disorder

description: A disorder characterized by impairment of verbal communication skills, often resulting from brain damage.


microphthalmia, water buffalo

description: Microphthalmia that occurs in water buffalo.


Dent disease type 1

description: Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.


name: isolated Dandy-Walker malformation with hydrocephalus


posterior corneal dystrophy

description: Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.


name: lissencephaly with cerebellar hypoplasia type A

description: Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.


Toriello-Carey syndrome

description: Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.


name: short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies


Leber congenital amaurosis 11

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.


chorea gravidarum

description: A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)


name: short-rib thoracic dysplasia 9 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.


name: central nervous system organ benign neoplasm

description: A benign neoplasm that involves the central nervous system.


blue diaper syndrome

description: Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.


hypomyelinating leukodystrophy 11

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.


primary thrombocytopenia

description: Evidence of other primary thrombocytopenia not specified elsewhere.


polycystic kidney disease 5

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.


spirillary rat-bite fever

description: Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.


name: mitochondrial complex 4 deficiency, nuclear type 10


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


name: neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


name: global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies


name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


dentigerous cyst

description: Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.


name: early-onset generalized limb-onset dystonia

description: A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.


lipoic acid synthetase deficiency

description: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


name: developmental and epileptic encephalopathy 100


name: partial bilateral aplasia of the mullerian ducts


dropped head syndrome

description: A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.


name: skeletal dysplasia and progressive central nervous system degeneration, lethal


renal dysplasia, non-human animal

description: Renal dysplasia that occurs in non-human animals.


name: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


name: idiopathic steroid-sensitive nephrotic syndrome

description: Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.


name: combined immunodeficiency due to OX40 deficiency

description: Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.


name: combined oxidative phosphorylation deficiency 56


persistent Mullerian duct syndrome

description: Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.


RIDDLE syndrome

description: An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.


Meacham syndrome

description: Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.


microphthalmia, isolated, with coloboma

description: A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.


pontocerebellar hypoplasia type 10

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.


name: acute myeloid leukemia, t(8;21)(q22; q22.1)

description: An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.


active tuberculosis

description: Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.


limited systemic sclerosis

description: Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.


extraskeletal myxoid chondrosarcoma

description: A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.


Pontiac fever

description: Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.


cervical adenomyoma

description: A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.


name: catecholaminergic polymorphic ventricular tachycardia 3

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


name: systemic primary carnitine deficiency disease

description: Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.


transient arthritis

description: Arthritis that is not permanent.


name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


name: hemolytic disease of fetus and newborn, RH-induced


malignant histiocytosis, dog

description: Malignant histiocytosis that occurs in dog.


name: MYT1L-related developmental delay-intellectual disability-obesity syndrome


necrotizing vasculitis

description: A type of vasculitis that is comprised of vasculitides that present with necrosis.


name: autosomal dominant limb-girdle muscular dystrophy type 1H

description: Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.


mixed gonadal dysgenesis

description: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.


tricuspid valve disorder

description: A disease involving the tricuspid valve.


infectious bovine rhinotracheitis

description: A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.


name: split-hand and split-foot with hypodontia


swine disease

description: Diseases of domestic swine and of the wild boar of the genus Sus.


omphalocele, cattle

description: Omphalocele that occurs in cattle.


name: SRD5A3-congenital disorder of glycosylation

description: A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.


name: retroperitoneal inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


pharyngoconjunctival fever

description: A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.


distal trisomy 10q

description: Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.


name: inborn disorder of tryptophan metabolism

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


retinitis pigmentosa 60

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.


kwashiorkor

description: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)


name: developmental and epileptic encephalopathy 107

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.


congenital ectropion uveae

description: Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.


delta-heavy chain disease

description: A heavy chain disease that results from an overproduction of delta antibody (IgD).


name: sporadic idiopathic steroid-resistant nephrotic syndrome

description: Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.


name: intellectual disability, X-linked, with panhypopituitarism


name: intellectual developmental disorder with dysmorphic facies and ptosis


cardiac tuberculosis

description: Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.


name: deafness, cataract, retinitis pigmentosa, and sperm abnormalities


name: neurodevelopmental disorder with speech impairment and dysmorphic facies


bladder sarcoma

description: A malignant mesenchymal cell neoplasm that affects the urinary bladder.


peritoneal benign neoplasm

description: A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.


radiation cystitis

description: Inflammation of the bladder due to irradiation.


bone leiomyosarcoma

description: A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.


malignant childhood germ cell neoplasm

description: A malignant germ cell tumor that occurs during childhood.


name: mesomelic dysplasia-digital anomalies-intellectual disability syndrome


name: dyskeratosis congenita, autosomal recessive 5

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.


name: congenital muscular dystrophy with intellectual disability


X-linked nonsyndromic hearing loss

description: X-linked form of nonsyndromic deafness.


name: primordial dwarfism and slender bone disorder

description: A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


benign neoplasm of floor of mouth

description: A benign neoplasm that involves the mouth floor.


name: intellectual disability, autosomal dominant 45


name: autosomal recessive syndromic cerebellar ataxia


chromosome 20 trisomy

description: Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.


trichostrongylosis

description: Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.


name: idiopathic mast cell activation syndrome

description: Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.


name: retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome

description: An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.


name: left superior vena cava persisting to left-sided atrium


osteoarthritis, domestic cat

description: Osteoarthritis that occurs in domestic cat.


fungal infection of eye

description: Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.


name: developmental and epileptic encephalopathy, 17

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


bovine leukemia

description: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle


name: amelogenesis imperfecta hypomaturation type 2A4

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


ectropion, non-human animal

description: Ectropion that occurs in non-human animals.


name: amastia, bilateral, with ureteral triplication and dysmorphism


patent urachus, sheep

description: Patent urachus that occurs in sheep.


inherited ichthyosis

description: Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.


Pseudomonas aeruginosa PA14 infection

description: A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.


reticulum cell sarcoma

description: An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.


deafness-hypogonadism syndrome

description: This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.


salivary duct calculi

description: Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.


non-human ape disease

description: Diseases of chimpanzees, gorillas, and orangutans.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.


name: RBFOX2-related congenital heart disorder

description: Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.


GRACILE syndrome

description: GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).


auditory neuropathy

description: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.


osteonecrosis of genetic origin

description: An instance of osteonecrosis that is caused by a modification of the individual's genome.


nasal glial heterotopia

description: Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.


name: adenosine triphosphatase deficiency, anemia due to


name: spondyloepiphyseal dysplasia with congenital joint dislocations

description: CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.


lipoma of spermatic cord

description: A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.


Seckel syndrome 1

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


retinal degeneration, domestic cat

description: Retinal degeneration that occurs in domestic cat.


Imerslund-Grasbeck syndrome type 1

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.


opsismodysplasia

description: Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.


name: nebulin-related early-onset distal myopathy


multiple synostoses syndrome 2

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.


multiple epiphyseal dysplasia type 1

description: Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.


parachute tricuspid valve

description: Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.


endometrial polyp

description: A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.


name: intellectual disability, autosomal dominant 22

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.


acute neonatal citrullinemia type I

description: Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


lipoblastoma

description: A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.


scleromyxedema

description: Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.


name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


cardiac ventricle disorder

description: A disease or disorder that involves the cardiac ventricle.


tetrasomy 18p

description: Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.


name: syndrome caused by partial chromosomal duplication of the short arm of chromosome 9


name: generalized epilepsy with febrile seizures plus, type 8


hip dysplasia, Beukes type

description: Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.


name: congenital erosive and vesicular dermatosis


name: neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


ALECT2 amyloidosis

description: A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.


name: primary cutaneous CD30+ T-cell lymphoproliferative disease


lichen planus, familial

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


name: catecholaminergic polymorphic ventricular tachycardia 5

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


group B streptococcal infection

description: A disease caused by infection with Group B Streptococcus.


name: autosomal recessive nonsyndromic hearing loss 76

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.


name: nasopharyngeal carcinoma, susceptibility to, 1

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


hematologic disorder, non-human animal

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


hemochromatosis type 2B

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


Troyer syndrome

description: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.


name: qualitative or quantitative defects of protein SERCA1


name: developmental and epileptic encephalopathy, 54


name: congenital anomaly of superior vena cava


inherited lipid metabolism disorder

description: An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.


name: cholestasis with gallstone, ataxia, and visual disturbance


name: deafness mesenteric diverticula of small bowel neuropathy


atrichia with papular lesions

description: Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.


name: progressive supranuclear palsy-corticobasal syndrome

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


neonatal hemochromatosis

description: Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4


name: autosomal dominant proximal renal tubular acidosis

description: Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.


name: motor neuron disease with dementia and ophthalmoplegia


name: congenital primary megaureter, refluxing form


cataract 14 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.


neuronal ceroid lipofuscinosis 2

description: A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


diabetes mellitus, non-human animal

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


GNAT2-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.


laryngeal neuroendocrine neoplasm

description: A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.


name: autoimmune pulmonary disease due to PD-1 deficiency

description: An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.


name: intellectual disability-hypotonic facies syndrome, X-linked, 1

description: A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.


ferro-cerebro-cutaneous syndrome

description: Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.


name: qualitative or quantitative defects of dysferlin


neoplasm of immature B and T cells

description: A neoplasm arising from immature B and T cells


miliaria pustulosa

description: A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.


grade II lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.


childhood kidney neoplasm

description: A kidney neoplasm that occurs during childhood.


pneumothorax, dog

description: Pneumothorax that occurs in dog.


description: Analphalipoproteinaemia that occurs in non-human animals.


posterior foramen magnum meningioma

description: A meningioma that affects the posterior foramen magnum.


cerebral hemisphere lipoma

description: A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.


name: encephalitis, acute, infection-induced, susceptibility to, 12


dysosteosclerosis

description: Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.


vascular disorder of penis

description: A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.


name: myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders


name: congenital heart defects, multiple types, 7


amyotrophic lateral sclerosis type 8

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


retinitis pigmentosa 4

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


central areolar choroidal dystrophy

description: A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.


epilepsy, non-human animal

description: Epilepsy that occurs in non-human animals.


name: ventriculomegaly with defects of the radius and kidney


schizotypal personality disorder

description: A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.


name: RNASEH2B-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

description: A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.


name: hepatic fibrosis-renal cysts-intellectual disability syndrome

description: A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.


brachydactyly-syndactyly syndrome

description: Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.


Huntington disease-like 2

description: Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.


ectodermal dysplasia 4, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.


hyperparathyroidism 4

description: Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.


glossopharyngeal nerve paralysis

description: Paralysis of the glossopharyngeal nerve.


fetal carbamazepine syndrome

description: A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.


hip dysplasia, canine

description: A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.


name: autosomal dominant nonsyndromic hearing loss 3B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


propylthiouracil embryofetopathy

description: Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).


urinary system neoplasm

description: A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003


cono-spondylar dysplasia

description: Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.


vesiculitis

description: An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.


protothecosis

description: A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.


microtia, sheep

description: Microtia that occurs in sheep.


name: combined oxidative phosphorylation deficiency 39


louse-borne relapsing fever

description: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.


achondroplasia, water buffalo

description: Achondroplasia that occurs in water buffalo.


name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


name: mitochondrial complex 1 deficiency, nuclear type 32


name: mitochondrial oxidative phosphorylation disorder


Marden-Walker syndrome

description: Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.


name: brachydactyly, type A2, with microcephaly


name: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


name: acute posterior multifocal placoid pigment epitheliopathy

description: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.


name: hyperphosphatasia with intellectual disability syndrome 5

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.


schizophrenia 2

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.


pericardial and diaphragmatic defect

description: Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.


name: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

description: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.


myofibrillar myopathy 6

description: Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.


cutaneous larva migrans

description: Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.


name: hypereosinophilic syndrome, domestic cat

description: Hypereosinophilic syndrome that occurs in domestic cat.


name: leukodystrophy, hypomyelinating, 26, with chondrodysplasia


neuronal ceroid lipofuscinosis 5

description: Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


familial angiolipomatosis

description: Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.


name: autosomal dominant nonsyndromic hearing loss 15

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.


Wolfram syndrome 1

description: Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.


eyelid hypopigmentation

description: Under-production of pigment in the eyelid.


name: persistent hyperplastic primary vitreous, autosomal dominant


autosomal recessive titinopathy

description: Autosomal recessive form of TTN-related myopathy.


name: incontinentia pigmenti, non-human animal

description: Incontinentia pigmenti that occurs in non-human animals.


cerebral folate deficiency

description: Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.


patent ductus venosus, gray wolf

description: Patent ductus venosus that occurs in gray wolf.


juvenile primary lateral sclerosis

description: Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.


congenital myasthenic syndrome 13

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.


acheiropody

description: Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.


laryngeal cartilage cancer

description: A malignant neoplasm involving the laryngeal cartilage.


abdominal obesity-metabolic syndrome 3

description: Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.


congenital myasthenic syndrome 19

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.


spinocerebellar ataxia type 31

description: Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.


pediatric intraocular retinoblastoma

description: Retinoblastoma during childhood that has not spread beyond the eye.


name: pheochromocytoma-islet cell tumor syndrome


HHV-7 infectious disease

description: A disease caused by infection with herpesvirus-7.


craniofrontonasal syndrome

description: An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.


name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

description: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.


mixed cell type kidney Wilms' tumor

description: Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).


congenital pseudomyotonia, dog

description: Congenital pseudomyotonia that occurs in dog.


vesicular exanthema of swine

description: A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.


name: idiopathic disseminated cytomegalovirus infection


anotia, non-human animal

description: Anotia that occurs in non-human animals.


atrial fibrillation, familial, 18

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.


disorder of glycogen metabolism

description: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.


20q13.33 microdeletion syndrome

description: 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.


orbital myositis

description: A rare form of myositis that affects only the orbital muscles.


name: syndromic X-linked intellectual disability Abidi type

description: X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.


Richieri Costa-Pereira syndrome

description: Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.


Bartholin gland benign neoplasm

description: A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


ataxia-telangiectasia-like disorder 1

description: Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.


granulosa cell tumor

description: A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.


Bartholin duct cyst

description: Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.


miliaria rubra

description: Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).


atrophy of thyroid

description: Tissue degeneration and diminished size of the thyroid gland.


tarsal-carpal coalition syndrome

description: Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.


name: cystic partially differentiated nephroblastoma

description: A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.


Pelizaeus-Merzbacher-like disease

description: Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).


hereditary angioedema type 1

description: Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


factor X deficiency, dog

description: Factor X deficiency that occurs in dog.


Gerstmann syndrome

description: Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.


name: autosomal dominant nocturnal frontal lobe epilepsy 2

description: An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.


porencephaly 2

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.


name: progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


name: neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities


diabetes insipidus, Japanese quail

description: Diabetes insipidus that occurs in Japanese quail.


familial meningioma

description: A meningioma that is transmitted from the parents to an offspring.


name: cardiomyopathy, fatal fetal, due to myocardial calcification


phalanx chondroma

description: A chondroma that involves the phalanx.


Alzheimer disease 6

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.


spinocerebellar ataxia type 19/22

description: Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.


AIDS related complex

description: A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.


name: mucopolysaccharidosis type 2, attenuated form

description: Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.


name: facial palsy, congenital, with ptosis and velopharyngeal dysfunction


bone benign neoplasm

description: A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.


name: hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

description: This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.


cataract 43

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.


ITPKB deficiency

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


name: blepharophimosis - intellectual disability syndrome, Verloes type


blue toe syndrome

description: A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.


name: polycystic kidney disease 3 with or without polycystic liver disease

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.


name: Niemann-Pick disease type C, adult neurologic onset


primary systemic mycosis

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


name: free sialic acid storage disease, infantile form


gnathomiasis

description: An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).


nephronophthisis 11

description: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.


hereditary spastic paraplegia 23

description: Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.


polyp of vagina

description: A polyp that involves the vagina.


atrial septal defect 1

description: An atrial heart septal defect type 1 associated with variation in the region 5p.


name: intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies


name: subacute inflammatory demyelinating polyneuropathy

description: A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).


spinal muscular atrophy, type 1

description: A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


cartilage development disorder

description: Any dysfunction in the growth of cartilage.


name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset


Brody myopathy

description: Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.


name: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


dehydration polycythemia

description: Polycythemia resulting from dehydration.


name: congenital brain dysgenesis due to glutamine synthetase deficiency


limb-mammary syndrome

description: Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.


name: brachydactyly-preaxial hallux varus syndrome

description: Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.


conventional angiosarcoma

description: An angiosarcoma characterized by the presence of malignant spindle endothelial cells.


retrocochlear disease

description: Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.


muscular dystrophy, domestic cat

description: Muscular dystrophy that occurs in domestic cat.


cowpox

description: A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.


qualitative platelet defect

description: A group of conditions characterized by impaired platelet function, which may be suggested by clinical evidence of bleeding in the setting of a normal platelet count.


retinal detachment, domestic cat

description: Retinal detachment that occurs in domestic cat.


rheumatoid nodulosis

description: A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.


pontocerebellar hypoplasia type 2D

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


malignant Sertoli cell tumor

description: A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.


name: combined oxidative phosphorylation deficiency 38


description: X-linked form of epidermodysplasia verruciformis.


helminthiasis

description: A parasitic infection characterized by the infestation with worms, mainly in the intestine.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.


Danon disease

description: A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.


local anesthetic poisoning

description: A poisoning that is caused by exposure to a local anesthetic.


Thiel-Behnke corneal dystrophy

description: Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.


Wolman disease

description: Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.


medulloblastoma SHH activated

description: A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.


autosomal recessive osteopetrosis 6

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.


name: neurodevelopmental, jaw, eye, and digital syndrome


name: radiation-induced disorder, non-human animal

description: Radiation-induced disorder that occurs in non-human animals.


vertebral disorder

description: A disease or disorder that involves the vertebra.


orofaciodigital syndrome IX

description: Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).


Pitt-Hopkins-like syndrome 2

description: Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.


polymicrogyria, cattle

description: Polymicrogyria that occurs in cattle.


name: pulmonary atresia-intact ventricular septum syndrome

description: Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.


nemaline myopathy 2

description: An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.


name: intellectual disability and myopathy syndrome


name: genetic central precocious puberty in female


inherited aplastic anemia

description: An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.


name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.


name: hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

description: This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.


name: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


microcephaly-cleft palate syndrome

description: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.


tetragametic chimerism

description: Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.


name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.


name: basal ganglia calcification, idiopathic, 9, autosomal recessive


name: factor 5 excess with spontaneous thrombosis


name: recombinase activating gene 2 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


childhood testicular neoplasm

description: A neoplasm that arises from the testis during childhood.


name: developmental and epileptic encephalopathy, 41

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.


bone marrow failure syndrome 3

description: Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.


isolated microphthalmia 3

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.


semicircular canal dehiscence syndrome

description: Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.


name: cloverleaf skull-asphyxiating thoracic dysplasia syndrome


hypoparathyroidism, horse

description: Hypoparathyroidism that occurs in horse.


name: isolated optic neuritis without anti-MOG antibodies


lymphoid neoplasm

description: A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.


15q overgrowth syndrome

description: 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.


A53 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.


lymphosarcoma, rabbit

description: Lymphosarcoma that occurs in rabbit.


name: B acute lymphoblastic leukemia with PAX5 P80R mutation

description: A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.


name: severe lateral tibial bowing with short stature

description: Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.


heart-hand syndrome type 2

description: Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).


fusariosis

description: Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.


adult xanthogranuloma

description: A xanthogranuloma that occurs in an adult.


erythrokeratoderma

description: An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.


name: congenital reticular ichthyosiform erythroderma


name: lattice degeneration of retina leading to retinal detachment


mandibulofacial dysostosis

description: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)


name: endometriosis of rectovaginal septum and vagina

description: Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.


glossopalatine ankylosis

description: Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.