isolated congenital syngnathia

description: Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.


name: radial ray hypoplasia-choanal atresia syndrome

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

description: Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.


endocardial fibroelastosis, horse

description: Endocardial fibroelastosis that occurs in horse.


name: hemiplegic migraine-developmental and epileptic encephalopathy spectrum

description: A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.


herpes simplex virus gingivostomatitis

description: Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.


omphalocele, non-human animal

description: Omphalocele that occurs in non-human animals.


hypogonadism, non-human animal

description: Hypogonadism that occurs in non-human animals.


name: testicular regression syndrome, non-human animal

description: Testicular regression syndrome that occurs in non-human animals.


hereditary spastic paraplegia 27

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.


name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

description: Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.


name: intellectual disability, autosomal recessive 54

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


pleuro-pericardial cyst

description: Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.


bone dysplasia, Azouz type

description: Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.


name: short limb dwarf lethal colavita kozlowski type


megacolon, horse

description: Megacolon that occurs in horse.


description: Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.


name: Alzheimer disease without neurofibrillary tangles


eye accommodation disease

description: Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.


name: Bernard-Soulier syndrome, type A2, autosomal dominant

description: A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.


childhood malignant kidney neoplasm

description: A malignant neoplasm that affects the kidney and occurs in childhood.


name: disorder of peptide and amine metabolism

description: An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.


name: colorectal cancer, susceptibility to, on chromosome 15


erythrocytosis, familial, 5

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


late-onset focal dermal elastosis

description: Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.


inherited thrombophilia

description: An instance of thrombophilia that is inherited.


vaginal leiomyoma

description: A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


mild Canavan disease

description: Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.


name: autosomal recessive nonsyndromic hearing loss 68

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.


neuroschistosomiasis

description: Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)


sheep lung adenocarcinoma

description: Adenocarcinoma arising from the lung of a sheep.


name: congenital stationary night blindness 1B

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.


cancer-related condition

description: A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).


name: RNASEH2C-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


hyperthyroxinemia

description: Abnormally elevated thyroxine level in the blood.


name: amelogenesis imperfecta, hypomaturation type, IIa6


name: neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures


Leber congenital amaurosis 8

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.


name: diarrhea-vomiting due to trehalase deficiency

description: This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.


Arenaviridae infectious disease

description: Virus diseases caused by the arenaviridae.


sphingolipidosis

description: An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.


hereditary palmoplantar keratoderma

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


Meier-Gorlin syndrome 2

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.


spermatogenic failure, X-linked, 2

description: Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.


name: AKT2-related familial partial lipodystrophy


name: mammary fibrocystic disease, non-human animal

description: Mammary fibrocystic disease that occurs in non-human animals.


cone dystrophy 3

description: Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.


name: familial Mediterranean fever, autosomal dominant


name: developmental and epileptic encephalopathy, 58


description: Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.


name: mitochondrial substrate carrier disorder


name: leukemia, acute myeloid, susceptibility to

description: An inherited susceptibility or predisposition to developing leukemia, acute myeloid.


name: autosomal dominant nonsyndromic hearing loss 43

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.


pityriasis rotunda

description: Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.


name: mitochondrial complex 1 deficiency, nuclear type 8


name: chromosome 22q11.2 microduplication syndrome

description: The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.


central core myopathy, horse

description: Central core myopathy that occurs in horse.


Elsahy-Waters syndrome

description: An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.


name: intellectual disability, autosomal dominant 41

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.


Ho-Kaufman-McAlister syndrome

description: Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet


Bruck syndrome 2

description: Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.


name: neurodevelopmental disorder with poor growth and behavioral abnormalities


name: familial idiopathic inflammatory myopathy

description: An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.


name: mitochondrial complex III deficiency nuclear type 7

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.


central nervous system hibernoma

description: A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.


name: neurodevelopmental disorder with alopecia and brain abnormalities


congenital candidiasis

description: A fungal infection by any of the Candida species that is present at birth.


benign neoplasm of spleen

description: A benign neoplasm that involves the spleen.


herpes zoster

description: A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.


name: mitochondrial complex III deficiency nuclear type 9

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.


O'nyong'nyong fever

description: An disease or disorder caused by infection with O'nyong-nyong virus.


acquired angioedema type 1

description: Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


familial anetoderma

description: Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.


name: erosive pustular dermatosis of the scalp

description: Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.


plague

description: Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.


white heifer disease

description: A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.


Aicardi-Goutieres syndrome 3

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.


name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

description: Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.


spastic ataxia 3

description: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.


name: SSR4-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).


rhinosporidiosis

description: Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.


name: leber congenital amaurosis, domestic cat

description: Leber congenital amaurosis that occurs in domestic cat.


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


name: stenosis or atrophy of the coronary ostium


radial nerve lesion

description: A peripheral nerve lesion that involves the radial nerve.


name: multiple congenital anomalies/dysmorphic syndrome-intellectual disability


name: lethal congenital contracture syndrome 9

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.


name: myasthenia gravis with thymus hyperplasia


atherosclerosis, pig

description: Atherosclerosis that occurs in pig.


inborn disorder of bilirubin metabolism

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


Brugada syndrome 6

description: Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.


name: keratoderma-ichthyosis-deafness syndrome, autosomal recessive


hereditary spastic paraplegia 42

description: Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.


name: congenital muscular dystrophy with hyperlaxity

description: Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.


Huntington disease-like 1

description: Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.


name: periodic fever syndrome, non-human animal

description: Periodic fever syndrome that occurs in non-human animals.


myasthenia gravis

description: Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.


ephemeral fever

description: An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness.


primary ciliary dyskinesia 24

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.


multicentric reticulohistiocytosis

description: Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.


cataract 41

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.


tauopathy

description: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.


name: autoimmune thrombocytopenia, non-human animal

description: Autoimmune thrombocytopenia that occurs in non-human animals.


binocular vision disease

description: Any inability to efficiently utilize and/or sustain binocular vision.


name: childhood round cell sarcoma with EWSR1-non-ETS fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.


name: bladder exstrophy-epispadias-cloacal extrophy complex

description: An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.


relapsing fever

description: Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.


name: spondyloepimetaphyseal dysplasia, Shohat type

description: A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.


fish melanoma

description: Melanoma that occurs in a fish.


Brucella canis brucellosis

description: A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 2

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.


extensively drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.


name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.


bone fibrosarcoma

description: A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


chromosome 19q13.11 deletion syndrome

description: The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.


distal trisomy 11q

description: Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.


name: breast-ovarian cancer, familial, susceptibility to, 1

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.


primary ciliary dyskinesia 19

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.


sulfur mustard poisoning

description: A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.


Kniest dysplasia

description: Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).


name: microcephalic primordial dwarfism due to RTTN deficiency

description: Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.


name: neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation


name: macular dystrophy with or without cone dysfunction


name: catecholaminergic polymorphic ventricular tachycardia 4

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.


fetishistic disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the "fetish").


osteogenesis imperfecta type 5

description: Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).


testicular infarct

description: Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.


Feingold syndrome type 1

description: Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.


Weil's disease

description: A jauncice caused by severe leptospirosis.


thalassemia

description: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.


name: epilepsy, familial focal, with variable foci 4


idiopathic disease

description: A disease or disorder for which the cause is of uncertain or unknown.


name: developmental and epileptic encephalopathy, 16


benign neoplasm of sweat gland

description: A benign neoplasm that involves the sweat gland.


monomelic amyotrophy

description: Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.


name: immunodeficiency with defective T-cell response to interleukin 1


extraskeletal Ewing sarcoma

description: A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.


name: autosomal recessive spinocerebellar ataxia 10

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.


acyl-CoA dehydrogenase 9 deficiency

description: A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


name: autoimmune disease, multisystem, infantile-onset, 3


brucellosis, bovine

description: A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent.


name: ectodermal dysplasia, trichoodontoonychial type

description: Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.


boutonneuse fever

description: An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.


name: intellectual disability, anterior maxillary protrusion, and strabismus


name: primary pigmented nodular adrenocortical disease

description: A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).


cortical senile cataract

description: A senile cataract that involves the lens cortex.


name: arrhythmogenic right ventricular cardiomyopathy, non-human animal

description: Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals.


name: straddling and/or overriding mitral valve


amelogenesis imperfecta type 1A

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.


description: STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.


multiple endocrine neoplasia type 1

description: Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.


name: neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder


name: developmental and epileptic encephalopathy, 5

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.


Teebi-Shaltout syndrome

description: Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.


anxiety disorder

description: A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.


chromosome 16p11.2 duplication syndrome

description: Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.


TWIST1-related craniosynostosis

description: Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.


name: cleft palate cardiac defect ectrodactyly


type 1 interferonopathy

description: Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.


Medich giant platelet syndrome

description: Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.


name: lissencephaly with cerebellar hypoplasia type E

description: Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.


name: microphthalmia, isolated, with coloboma 8


nevus of Ito

description: Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.


frontonasal dysplasia, non-human animal

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


CAPN5-related vitreoretinopathy

description: An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.


thyroiditis, domestic guinea pig

description: Thyroiditis that occurs in domestic guinea pig.


lymphomatoid papulosis

description: Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.


name: multiple congenital anomalies-neurodevelopmental syndrome, X-linked


name: cerebellar dysfunction with variable cognitive and behavioral abnormalities

description: Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).


name: infantile osteopetrosis with neuroaxonal dysplasia

description: This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.


thrombocytopenia, domestic cat

description: Thrombocytopenia that occurs in domestic cat.


white sponge nevus 1

description: Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.


corneal infection

description: A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.


Bailey-Bloch congenital myopathy

description: Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.


congenital cataract-ichthyosis syndrome

description: Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.


glucocorticoid resistance, dog

description: Glucocorticoid resistance that occurs in dog.


cerebrovascular disorder

description: A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.


name: Bunyaviridae infectious disease, non-human animal

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


name: gastrointestinal defect and immunodeficiency syndrome


name: non-neonatal early infantile epileptic encephalopathy

description: Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.


name: aniridia-ptosis-intellectual disability-familial obesity syndrome

description: Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.


amelogenesis imperfecta type 1E

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


name: neuronopathy, distal hereditary motor, autosomal dominant

description: Autosomal dominant form of distal hereditary motor neuropathy.


name: marcothrombocytopenia with mitral valve insufficiency

description: Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.


name: deafness conductive stapedial ear malformation facial palsy


name: Duane retraction syndrome with congenital deafness

description: A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.


hyperekplexia 3

description: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.


name: cerebroretinal microangiopathy with calcifications and cysts 2

description: Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.


treatment-refractory schizophrenia

description: Schizophrenia which does not respond to commonly used treatments.


auriculocondylar syndrome 2

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.


congenital tricuspid stenosis

description: Tricuspid valve stenosis that is present at birth.


brachydactyly, dog

description: Brachydactyly that occurs in dog.


spinal dermal sinus

description: A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.


name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


testicular monophasic choriocarcinoma

description: A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.


name: congenital axonal neuropathy with encephalopathy

description: A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.


mycosis fungoides, domestic cat

description: Mycosis fungoides that occurs in domestic cat.


methamphetamine-induced psychosis

description: Abnormal mental state resulting from an abuse of methamphetamine


name: developmental and epileptic encephalopathy, 27

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.


disease related to transplantation

description: Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.


name: autosomal dominant nonsyndromic hearing loss 23

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.


description: X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.


name: SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss

description: A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.


epithelioid trophoblastic tumor

description: An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.


Alkhurma hemorrhagic fever

description: A disease caused by infection with Alkhumra hemorrhagic fever virus.


B-cell acute lymphoblastic leukemia

description: A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)


acquired adult-onset immunodeficiency

description: A acquired immunodeficiency that occurs in an adult.


name: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features


autoimmune retinopathy

description: An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.


name: COG1-congenital disorder of glycosylation

description: COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.


parkinsonism with polyneuropathy

description: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the UQCRC1 gene, encoding cytochrome b-c1 complex subunit 1, mitochondrial.


name: immunodeficiency 106, susceptibility to viral infections


name: spastic tetraplegia and axial hypotonia, progressive


name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations


ectothrix infectious disease

description: A dermatophyte infection of the hair that infects the hair surface.


oculo-palato-cerebral syndrome

description: Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

description: Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.


benign dermal neurilemmoma

description: A benign schwannoma occurring in the skin.


hereditary retinoblastoma

description: An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.


name: camptodactyly syndrome, Guadalajara type 2

description: Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.


name: alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.


Charcot-Marie-Tooth disease type 4G

description: Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.


name: leukoencephalopathy, hereditary diffuse, with spheroids 2


systemic polyarteritis nodosa

description: Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.


urolithiasis, long-tailed chinchilla

description: Urolithiasis that occurs in long-tailed chinchilla.


name: congenital anomaly of the inferior vena cava


name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation


name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome


central pontine myelinolysis

description: A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.


Charcot-Marie-Tooth disease type 2D

description: Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


description: A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).


name: cardiac septal defects with coarctation of the aorta


hereditary spastic paraplegia 56

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.


name: intellectual disability, autosomal dominant 48


Alexander disease type II

description: Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.


loose anagen syndrome

description: Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.


femoral neuropathy

description: Neuropathy of the femoral nerve.


retinitis pigmentosa 31

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


cryptorchidism, goat

description: Cryptorchidism that occurs in goat.


Sunflower syndrome

description: A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.


name: congenital cystic eye multiple ocular and intracranial anomalies


name: developmental and epileptic encephalopathy, 52


secondary hypertension

description: High blood pressure caused by an underlying medical condition.


congenital myasthenic syndrome 3B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.


hydatidiform mole, recurrent, 2

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.


name: subepithelial mucinous corneal dystrophy

description: Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.


name: dystonia 37, early-onset, with striatal lesions


cleft palate, chicken

description: Cleft palate that occurs in chicken.


Charcot-Marie-Tooth disease type 4C

description: Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.


craniosynostosis 2

description: A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.


neoplasm of major salivary gland

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


name: developmental and epileptic encephalopathy, 30

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.


brain stem infarction

description: Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.


adenylosuccinate lyase deficiency

description: Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


name: hypogonadotropic hypogonadism 5 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.


name: hypogonadotropic hypogonadism 18 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.


neonatal thrombocytopenia

description: A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.


name: Zellweger-like syndrome without peroxisomal anomalies

description: An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.


pneumococcal infection

description: Infections with bacteria of the species streptococcus pneumoniae.


familial partial epilepsy

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


canine cutaneous t-cell lymphoma

description: Cutaneous T-cell lymphoma occurring in a dog.


premature ovarian failure 6

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


name: micromelic bone dysplasia with cloverleaf skull


name: megalencephalic leukoencephalopathy with subcortical cysts

description: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.


urinary bladder cancer

description: A primary or metastatic malignant neoplasm involving the bladder.


3MC syndrome 1

description: Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.


name: Charcot-Marie-Tooth disease dominant intermediate D

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.


urolithiasis, kangaroo

description: Urolithiasis that occurs in kangaroo.


juvenile nephropathic cystinosis

description: Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


name: neonatal urinary tract infectious disease


MOMO syndrome

description: MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.


name: symbrachydactyly of hand and foot, unilateral


name: familial intestinal malrotation-facial anomalies syndrome


distal monosomy 19p13.3

description: Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).


congenital structural myopathy

description: A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.


Bangstad syndrome

description: Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.


Borrelia infectious disease

description: Infections with bacteria of the genus borrelia.


halo nevus

description: A benign melanocytic nevus with a halo appearance.


name: autosomal dominant nonsyndromic hearing loss 40

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


name: lymphoplasmacytic lymphoma without IgM production


X-linked cone-rod dystrophy

description: X-linked form of cone-rod dystrophy.


name: short stature-advanced bone age-early-onset osteoarthritis syndrome


perinatal disease, non-human animal

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


inverted follicular keratosis

description: Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.


inclusion conjunctivitis

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


AA amyloidosis, pig

description: AA amyloidosis that occurs in pig.


coloboma, non-human animal

description: Coloboma that occurs in non-human animals.


name: respiratory infections, recurrent, and failure to thrive with or without diarrhea


name: alacrima, congenital, autosomal dominant


congenital panfollicular nevus

description: Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.


pontocerebellar hypoplasia type 1

description: Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.


name: electroencephalographic peculiarity: fronto-precentral beta wave groups


name: anophthalmia esophageal atresia cryptorchidism

description: A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: trimethylaminuria (fishy taint), chicken

description: Trimethylaminuria (fishy taint) that occurs in chicken.


name: congenital pulmonary airway malformation type 3


cholesterol metabolism disease

description: A disease that has its basis in the disruption of cholesterol metabolic process.


name: calcific aortic disease with immunologic abnormalities, familial


name: intellectual developmental disorder with speech delay and axonal peripheral neuropathy


atrioventricular septal defect 5

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.


name: macrocephaly, acquired, with impaired intellectual development


anterior segment dysgenesis 3

description: An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)


name: early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

description: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.


name: glutathione transferase activity toward trans-stilbene oxide


name: neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

description: An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.


glycogen storage disease VII

description: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


name: maternal uniparental disomy of chromosome 2

description: Maternal uniparental disomy of chromosome 2 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.


giant cell reparative granuloma

description: A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.


name: microcephaly, epilepsy, and diabetes syndrome 2


Dressler syndrome

description: A pericarditis characterized by inflammation, occurring after injury, located in pericardium.


holoprosencephaly 3

description: Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.


name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

description: A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.


pheochromocytoma, domestic cat

description: Pheochromocytoma that occurs in domestic cat.


name: neurological muscular channelopathy due to a genetic ryanodine receptor defect


exudative vitreoretinopathy 1

description: An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity.


name: myeloperoxidase deficiency, non-human animal

description: Myeloperoxidase deficiency that occurs in non-human animals.


name: familial encephalopathy with neuroserpin inclusion bodies


verbal auditory agnosia

description: An agnosia that is a loss of the ability to recognizing spoken words as semantically meaningful.


microphthalmia, syndromic 12

description: Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.


name: autosomal dominant striatal neurodegeneration type 1

description: Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.


PRPS1 deficiency disorder

description: A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.


pleomorphic lipoma

description: A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.


rubella

description: A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.


name: branchial myoclonus with spastic paraparesis and cerebellar ataxia


uterine ligament adenosarcoma

description: An extremely rare adenosarcoma that arises from the uterine ligament.


asphyxiating thoracic dystrophy 4

description: An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.


name: cardiomelic syndrome stratton Koehler type


name: microcephalic osteodysplastic primordial dwarfism, type 3


name: autosomal dominant hypohidrotic ectodermal dysplasia

description: Autosomal dominant form of hypohidrotic ectodermal dysplasia.


name: maternal uniparental disomy of chromosome 21


GM1 gangliosidosis type 2

description: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.


periodontitis, aggressive 1

description: A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.


intellectual disability, X-linked 105

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.


name: Hao-Fountain syndrome due to USP7 mutation


Bartonellaceae infectious disease

description: Infections with bacteria of the family bartonellaceae.


name: medullomyoblastoma with myogenic differentiation

description: A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.


T-cell prolymphocytic leukemia

description: A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.


peripheral neuropathy, pig

description: Peripheral neuropathy that occurs in pig.


name: pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome


gram-positive bacterial infections

description: Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.


name: partial deletion of the short arm of chromosome 5


name: osteogenesis imperfecta and a reduction of bone mineral density.

description: A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.


vascular neoplasm

description: A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.


name: partial duplication of the long arm of chromosome 22


DOORS syndrome

description: DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.


RCBTB1-related retinopathy

description: An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.


name: agammaglobulinemia 9, autosomal recessive

description: An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.


Gaucher disease perinatal lethal

description: Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).


porphyria cutanea tarda, sheep

description: Porphyria cutanea tarda that occurs in sheep.


name: craniosynostosis exostoses nevus epibulbar dermoid


name: autism spectrum disorder - epilepsy - arthrogryposis syndrome

description: SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).


name: hypotaurinemic retinal degeneration and cardiomyopathy


pelvic inflammatory disease

description: Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.


autonomic nervous system disorder

description: A disease involving the autonomic nervous system.


branchiooculofacial syndrome

description: Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.


name: congenital generalized lipodystrophy type 4

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.


name: autoinflammatory syndrome, familial, Behcet-like 1


name: Charcot-Marie-Tooth disease dominant intermediate F

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.


acute myeloid leukemia, t(v;11q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)


familial cystic renal disease

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


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4

description: An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.


benign mesothelioma

description: A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.


name: high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement


high anorectal malformation

description: High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.


familial multiple lipomatosis

description: Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.


inborn disorder of proline metabolism

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


name: encephalitis/encephalopathy, mild, with reversible myelin vacuolization


factitious disorder

description: A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.


heart disorder

description: A disease involving the heart and/or pericardium.


14q11.2 microduplication syndrome

description: 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.


Togaviridae infectious disease

description: Virus diseases caused by the togaviridae.


name: partial trisomy/tetrasomy of the short arm of chromosome 5


idiopathic juvenile osteoporosis

description: Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.


name: night blindness, congenital stationary, type1i


nodular non-suppurative panniculitis

description: Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.


autoimmune atherosclerosis

description: An autoimmune form of atherosclerosis.


chromosome 1q21.1 deletion syndrome

description: 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.


amelanotic skin melanoma

description: A amelanotic melanoma that involves the zone of skin.


autism spectrum disorder, zebra finch

description: Autism spectrum disorder that occurs in zebra finch.


name: immune system disorder, non-human animal

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


name: developmental and epileptic encephalopathy, 83


name: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia

description: A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.


name: agammaglobulinemia 4, autosomal recessive

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


name: metabolic myopathy due to lactate transporter defect

description: Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.


tremor, hereditary essential, 1

description: Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.


Bacillaceae infectious disease

description: Infections with bacteria of the family bacillaceae.


name: colorectal cancer, susceptibility to, 12

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.


name: congenital muscular dystrophy with cataracts and intellectual disability

description: A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.


MEHMO syndrome

description: MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.


congenital myotonic dystrophy

description: Myotonic dystrophy that is present at birth.


name: heterotaxy, visceral, 11, autosomal, with male infertility


tick-borne infectious disease

description: Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.


Rift valley fever

description: Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.


name: mosaic genome-wide paternal uniparental disomy


description: A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.


name: spastic paraplegia 85, autosomal recessive


lower respiratory tract disorder

description: A disease involving the lower respiratory tract.


mosaic trisomy 13

description: Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.


Dengue hemorrhagic fever

description: A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.


cutaneous leukocytoclastic angiitis

description: Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.


isolated foveal hypoplasia

description: A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.


description: Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.


hypercholanemia, familial 1

description: A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.


Axenfeld-Rieger syndrome type 2

description: An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.


name: acute myeloid leukemia, KIT gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)


anterior segment dysgenesis 4

description: Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.


name: spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

description: A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.


cauda equina syndrome, dog

description: Cauda equina syndrome that occurs in dog.


name: extralobar congenital pulmonary sequestration


name: cone dystrophy, X-linked, with tapetal-like sheen


allergic cutaneous vasculitis

description: Inflammation of the small vessels of the skin that is mediated by the immune system.


name: lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis


porphyrin metabolism disease

description: A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.


name: autosomal dominant keratitis-ichthyosis-hearing loss syndrome

description: Autosomal dominant form of KID syndrome.


name: fibrosis of extraocular muscles, congenital, with synergistic divergence


ectopic thymus

description: A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.


auriculocondylar syndrome 1

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.


name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

description: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).


childhood leukemia

description: An acute or chronic leukemia that occurs during childhood.


description: This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.


familial hyperlipidemia

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


name: atypical hemolytic-uremic syndrome with B factor anomaly


traumatic encephalopathy

description: Encephalopathy resulting from trauma.


Coffin-Siris syndrome 1

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.


HELIOS deficiency

description: A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.


pheochromocytoma, non-human animal

description: Pheochromocytoma that occurs in non-human animals.


localized scleroderma

description: Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.


orbit neoplasm

description: A benign or malignant neoplasm that affects the orbit.


name: multiple epiphyseal dysplasia due to collagen 9 anomaly

description: Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.


focal segmental glomerulosclerosis 2

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.


description: Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)


inborn disorder of ketolysis

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


digenic alpha thalassemia spectrum

description: An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.


typhus

description: A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.


name: lysosomal storage disease, non-human animal

description: Lysosomal storage disease that occurs in non-human animals.


bilateral meningioma of optic nerve

description: Meningiomas that affects both optic nerves.


autosomal recessive osteopetrosis 2

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.


congenital eyelid retraction

description: Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.


familial nasal acilia

description: Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.


name: mixed endometrial stromal and smooth muscle tumor

description: A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.


cellular leiomyoma

description: A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


Grant syndrome

description: Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.


name: auditory neuropathy-optic atrophy syndrome


name: disorder of fatty acid and ketone body metabolism


prion disease

description: A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.


malignant conjunctival melanoma

description: A malignant melanoma within the conjunctiva of the eye.


refractory cytopenia of childhood

description: The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.


name: familial severe combined immunodeficiency


ulcer of lower limbs

description: Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.


primary orthostatic tremor

description: Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.


Thomas syndrome

description: Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.


protein-deficiency anemia

description: Anemia associated with inadequate protein intake.