tuberculosis, avian

description: A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells.


hypoglossal nerve neoplasm

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

description: A neoplasm involving a hypoglossal nerve.


name: acute myeloid leukemia, t(11;19)(q23;p13.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)


name: Charcot-Marie-Tooth disease recessive intermediate B

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.


name: MME-related autosomal dominant Charcot Marie Tooth disease type 2


name: mitochondrial complex 4 deficiency, nuclear type 15


acrofacial dysostosis Cincinnati type

description: Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.


description: A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.


parapsoriasis

description: Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.


Warburg micro syndrome 2

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.


citrullinaemia, cattle

description: Citrullinemia that occurs in cattle.


jugular foramen meningioma

description: A meningioma that affects the jugular foramen.


Alzheimer disease 19

description: Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


asphyxiating thoracic dystrophy 1

description: An asphyxiating thoracic dystrophy associated with variation in the region 15q13.


non-hodgkin lymphoma, domestic cat

description: Non-hodgkin lymphoma that occurs in domestic cat.


van der Woude syndrome 2

description: Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.


name: autosomal dominant nonsyndromic hearing loss 51

description: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.


Crandall syndrome

description: This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.


description: A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.


name: splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells


name: uterine corpus perivascular epithelioid cell tumor

description: A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.


name: ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability


name: isolated growth hormone deficiency type IB

description: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.


name: syndromic X-linked intellectual disability Snyder type

description: Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.


name: immunodeficiency 109 with lymphoproliferation


absence epilepsy

description: Epilepsy characterized by very brief episodes of sudden cessation of activity, usually associated with eye blinking. There is no loss of the muscle tone.


name: combined oxidative phosphorylation deficiency 44


arterial thoracic outlet syndrome

description: Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.


schizophrenia 8

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.


name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

description: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.


name: neurodevelopmental disorder with infantile epileptic spasms


coxoauricular syndrome

description: Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.


name: severe achondroplasia-developmental delay-acanthosis nigricans syndrome

description: A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).


chromosome 17p13.3 duplication syndrome

description: 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


name: headache associated with sexual activity


adult acne

description: Acne that occurs in an adult.


isolated cleft lip

description: Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.


smooth muscle tumor

description: A benign or malignant myomatous neoplasm arising from smooth muscle.


pediatric extraocular retinoblastoma

description: Retinoblastoma during childhood that has spread beyond the eye.


G6PD deficiency

description: An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


polyradiculopathy

description: A radiculopathy that is present in more than one nerve.


name: corticosterone methyloxidase type 1 deficiency


name: polyposis, intestinal, with multiple exostoses


name: white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

description: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.


Binder syndrome

description: A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.


name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


radio-renal syndrome

description: Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.


name: autosomal dominant Charcot-Marie-Tooth disease type 2M

description: Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.


name: inborn disorder of lysosomal amino acid transport


name: chronic monocytic leukemia, non-human animal

description: Chronic monocytic leukemia that occurs in non-human animals.


cleft lip-retinopathy syndrome

description: Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.


name: hearing loss, sensorineural, autosomal-mitochondrial type


Phelan-McDermid syndrome

description: Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.


childhood malignant neoplasm

description: A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).


name: myopathy, congenital, progressive, with scoliosis


name: non-syndromic anorectal malformation with rectourethral fistula, prostatic type


name: benign partial epilepsy of infancy with complex partial seizures

description: Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.


name: muscular dystrophy, limb-girdle, autosomal recessive 27


psammomatous meningioma

description: A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.


name: follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts


name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect


interstitial cystitis

description: A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.


name: chromosome 22q11.2 deletion syndrome, distal

description: Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.


name: mitochondrial complex 1 deficiency, nuclear type 9


nephronophthisis 15

description: Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.


multiple synostoses syndrome

description: Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.


name: synchronous multifocal osteogenic sarcoma

description: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.


cataract - microcornea syndrome

description: Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.


name: ataxia-telangiectasia with generalized skin pigmentation and early death


fountain syndrome

description: Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.


chromosome 16p13.3 duplication syndrome

description: 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.


pulmonary agenesis, non-human animal

description: Pulmonary agenesis that occurs in non-human animals.


osteogenesis imperfecta type 14

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.


spermatogenic failure 13

description: Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.


alopecia areata, pig

description: Alopecia areata that occurs in pig.


alcohol-related disorders

description: Disorders related to or resulting from abuse or mis-use of alcohol.


name: acute myeloid leukemia, FLT3 internal tandem duplication

description: Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)


name: combined oxidative phosphorylation deficiency 55


acute salpingitis

description: Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.


name: microcephaly 14, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.


choroid cancer

description: A malignant neoplasm involving the optic choroid.


name: ceroid lipofuscinosis, neuronal, 4 (Kufs type)

description: A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


name: autosomal recessive combined immunodeficiency due to IL6R deficiency


name: omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome


acute tonsillitis

description: An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.


necrobiosis lipoidica

description: Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.


muscular dystrophy, Duchenne type, dog

description: Muscular dystrophy, Duchenne type that occurs in dog.


name: epilepsy with generalized tonic-clonic seizures

description: A generalized tonic-clonic seizure.


name: benign childhood occipital epilepsy, Gastaut type

description: A rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.


anterior segment dysgenesis 8

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.


spinal muscular atrophy, type IV

description: Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


name: Charcot-Marie-Tooth Disease, axonal, type 2GG

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 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 demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.


name: autosomal dominant nonsyndromic hearing loss 44

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.


polydactyly, non-human animal

description: Polydactyly that occurs in non-human animals.


tetralogy of fallot, dog

description: Tetralogy of fallot that occurs in dog.


secondary mast cell activation syndrome

description: Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.


name: intellectual disability-balding-patella luxation-acromicria syndrome

description: Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.


name: intellectual disability, autosomal dominant


uterine disorder

description: A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.


cleft palate, cattle

description: Cleft palate that occurs in cattle.


Norum disease

description: A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.


primary essential cutis verticis gyrata

description: Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.


name: autosomal recessive spinocerebellar ataxia 18

description: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.


pulmonary hypertension

description: Increased pressure within the pulmonary circulation due to lung or heart disorder.


name: Bicervical bicornuate uterus with patent cervix and vagina


primary ciliary dyskinesia 3

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.


name: diaphragmatic hernia-short bowel-asplenia syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.


cancer or benign tumor

description: Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.


AA amyloidosis, domestic cat

description: AA amyloidosis that occurs in domestic cat.


name: autonomic nervous system benign neoplasm


poisoning, non-human animal

description: Poisoning that occurs in non-human animals.


name: complex cortical dysplasia with other brain malformations 1

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.


kyphomelic dysplasia

description: Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.


lymphoepithelial-like carcinoma

description: Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.


frontal sinusitis

description: An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.


nervous system benign neoplasm

description: Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).


name: acute poisoning by drugs with membrane-stabilizing effect

description: Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.


name: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency


name: mitochondrial complex 4 deficiency, nuclear type 17


myofibrillar myopathy 2

description: Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.


name: inborn disorder of glycine and serine metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.


name: intellectual disability, autosomal dominant 38

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.


name: capillary malformation-arteriovenous malformation 2


description: This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.


name: hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase


Perry syndrome

description: Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.


name: autosomal recessive ataxia due to PEX16 deficiency


name: reproductive system disorder, non-human animal

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


atherosclerosis, golden hamster

description: Atherosclerosis that occurs in golden hamster.


mercury poisoning

description: Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.


autotopagnosia

description: An agnosia that is a loss of the ability to orient parts of the body.


Usher syndrome type 3A

description: Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.


description: A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.


vulvar leiomyosarcoma

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


KINSSHIP syndrome

description: A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.


thrombocythemia 2

description: Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.


periosteal chondroma

description: A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.


name: extrasystoles short stature hyperpigmentation microcephaly


Huntington disease, non-human animal

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


sclerosteosis 1

description: Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.


guttate psoriasis

description: Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.


voyeurism

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.


lichen planus

description: A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.


Charcot-Marie-Tooth disease type 4K

description: SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).


name: cavernous hemangiomas of face-supraumbilical midline raphe syndrome


pleural tuberculosis

description: Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

description: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.


peritoneal solitary fibrous tumor

description: A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.


description: Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.


paragangliomas 1

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.


name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis


osteosarcoma

description: A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.


Kummell disease

description: A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.


nephrotic syndrome, type 13

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.


name: epidermolysis bullosa, junctional 3B, severe


name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type

description: Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.


cutaneous anthrax

description: An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.


fibroepithelial polyp of urethra

description: A benign polypoid lesion of mesodermal origin that arises from the urethra.


name: exocrine pancreatic insufficiency, tiger

description: Exocrine pancreatic insufficiency that occurs in tiger.


myxoid glioneuronal tumor

description: A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.


cryptorchidism, horse

description: Cryptorchidism that occurs in horse.


arteriosclerotic retinopathy

description: A arteriosclerosis disorder that involves the retina.


photosensitive epilepsy

description: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.


name: lymphedema-cerebral arteriovenous anomaly syndrome

description: Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.


name: hypertrophic osteoarthropathy, primary, autosomal dominant


name: coronary artery disease, autosomal dominant, 1

description: Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.


name: congenital pulmonary airway malformation type 1


Leri-Weill dyschondrosteosis

description: Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.


name: mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


Neuhauser anomaly

description: Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).


ring chromosome 4

description: Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.


name: diffuse leptomeningeal glioneuronal tumor

description: A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.


primary hyperoxaluria type 3

description: Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.


syndactyly, sheep

description: Syndactyly that occurs in sheep.


proliferative vitreoretinopathy

description: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.


tenosynovitis

description: Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.


narcolepsy 7

description: Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.


childhood electroclinical syndrome

description: A electroclinical syndrome that occurs during childhood.


postpartum depression

description: A type of clinical depression that occurs after childbirth.


name: spastic paraplegia 79A, autosomal dominant, with ataxia


annular lichen planus

description: Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.


name: autoinflammatory syndrome with immunodeficiency

description: An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.


attenuated Chédiak-Higashi syndrome

description: Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.


spastic ataxia 1

description: Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.


name: self-limited familial infantile epilepsy

description: This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.


cone-rod dystrophy 6

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


polyrrhinia

description: Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.


name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

description: Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.


acquired peripheral neuropathy

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


name: deafness, cataract, impaired intellectual development, and polyneuropathy


description: X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.


thrombotic microangiopathy

description: The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.


leg dermatosis

description: A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)


Joubert syndrome 16

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.


distal trisomy 6p

description: Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.


endemic goiter

description: Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.


name: neurodevelopmental disorder with visual defects and brain anomalies


syndactyly, dog

description: Syndactyly that occurs in dog.


essential fructosuria

description: Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.


dermatofibrosarcoma protuberans

description: Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).


name: autosomal recessive nonsyndromic hearing loss 13

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.


congenital hypothyroidism, chicken

description: Congenital hypothyroidism that occurs in chicken.


parietal foramina 1

description: Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.


skull base neoplasm

description: A benign or malignant neoplasm that affects the skull base.


urethral disorder

description: A disease involving the urethra.


name: PAX5-related B lymphopenia and autism spectrum disorder

description: PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.


name: acute myeloid leukemia, t(6;9)(p23;q34.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)


lacrimal apparatus disorder

description: A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.


chromosome 17 disorder

description: Chromosomal disorder in which chromosome 17 is affected.


name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


nephritis, non-human animal

description: Nephritis that occurs in non-human animals.


myoclonic dystonia 26

description: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.


name: high-grade neuroendocrine carcinoma of the corpus uteri

description: High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.


name: intellectual disability, autosomal recessive 63


idiopathic acute transverse myelitis

description: Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.


name: partial duplication of the long arm of chromosome 14


osteogenesis imperfecta type 7

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


disorder of peroxisomal transporter

description: Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


name: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome


name: acute myeloid leukemia, CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)


ergotism

description: Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.


Ackerman syndrome

description: Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.


aglossia and situs inversus

description: A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.


altitude sickness

description: Multiple symptoms associated with reduced oxygen at high altitude.


name: distal myopathy with vocal cord weakness

description: Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.


tinea pedis

description: Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.


tetramelic monodactyly

description: Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.


name: intellectual disability, autosomal dominant 3

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.


classic medulloblastoma

description: Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.


name: ketoacidosis due to monocarboxylate transporter-1 deficiency


peroneal nerve paralysis

description: Paralysis of the nerves located in the legs.


Liddle syndrome 1

description: Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.


name: combined oxidative phosphorylation deficiency 42


Arterivirus infectious disease

description: Infections caused by viruses of the family arteriviridae.


metachromatic leukodystrophy

description: A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


herpetiform pemphigus

description: Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.


name: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability


description: Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.


nemaline myopathy 7

description: Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.


fascioloidiasis

description: Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.


name: congenital alveolar dysplasia due to TBX4

description: Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


name: developmental and epileptic encephalopathy 110


branchiootic syndrome 3

description: Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.


Leydig cell hypoplasia, type 1

description: Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.


intellectual disability, X-linked 101

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.


name: epidermolysis bullosa simplex 1A, generalized severe

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.


locked-in syndrome

description: Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.


isotretinoin-like syndrome

description: Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.


myopathy caused by variation in FKRP

description: Any myopathy in which the cause of the disease is a variation in the FKRP gene.


name: toxic maculopathy due to antimalarial drugs

description: Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.


lumbar plexus neoplasm

description: A neoplasm (disease) that involves the lumbar nerve plexus.


benign teratoma

description: A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.


name: developmental and epileptic encephalopathy 109


pestivirus infectious disease

description: Infections with viruses of the genus pestivirus, family flaviviridae.


vaginal rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.


specific granule deficiency 1

description: Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.


name: congenital stationary night blindness 1H

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.


name: mitochondrial complex 1 deficiency, nuclear type 25


elastoderma

description: Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.


name: multiple congenital anomalies/dysmorphic syndrome


name: herpes simplex type 2 infectious disease

description: A disease caused by infection with herpes simplex type 2.


ureter cancer

description: A malignant neoplasm involving the ureter


name: transient congenital hypothyroidism due to maternal factor


name: craniosynostosis with ocular abnormalities and hallucal defects


composite lymphoma

description: Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.


acute maxillary sinusitis

description: Acute form of maxillary sinusitis.


name: autosomal recessive ataxia due to PEX10 deficiency


name: autosomal recessive limb-girdle muscular dystrophy

description: Autosomal recessive form of limb-girdle muscular dystrophy.


hemoglobin E-beta-thalassemia syndrome

description: Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.


name: familial isolated clinodactyly of fingers

description: Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.


Bardet-Biedl syndrome 2

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.


immunodeficiency, common variable, 6

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.


name: spondyloepimetaphyseal dysplasia, Bieganski type

description: A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.


chronic gingivitis

description: Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.


adult-onset nemaline myopathy

description: Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.


cylindrical spirals myopathy

description: Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.


ligneous conjunctivitis

description: A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.


16q24.3 microdeletion syndrome

description: 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.


name: microphthalmia, isolated, with coloboma 10

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.


multiple synostoses syndrome 1

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


autosomal dominant spastic ataxia

description: Autosomal dominant form of spastic ataxia.


amelanotic melanoma

description: A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.


focal facial dermal dysplasia type IV

description: Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.


cerebral cavernous malformation

description: A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.


name: ovarian cancer, familial, susceptibility to, 1


familial idiopathic torsion dystonia

description: An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.


name: central sleep apnea caused by high altitude


name: spondylocostal dysostosis 2, autosomal recessive


juxtaposition of the atrial appendages

description: Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.


name: atypical pantothenate kinase-associated neurodegeneration


name: facial paresis, hereditary congenital, 3

description: Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.


myoclonic cerebellar dyssynergia

description: A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)


name: familial apolipoprotein gene cluster deletion syndrome


staphylococcal necrotizing pneumonia

description: Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.


name: ectodermal dysplasia with intellectual disability and syndactyly


basal ganglia cerebrovascular disorder

description: A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).


name: prostatic malacoplakia associated with prostatic abscess


creatine biosynthetic process disease

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


name: brachydactyly-mesomelia-intellectual disability-heart defects syndrome

description: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).


dipetalonemiasis

description: A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.


name: autosomal dominant combined immunodeficiency due to ERBIN deficiency


name: Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


conjunctival nevus

description: A benign melanocytic neoplasm that arises from the conjunctiva.


mouth disorder, non-human animal

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


sulfur metabolism disease

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


name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis


cat disease

description: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used.


hyperhomocysteinemia

description: A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.


vernal conjunctivitis

description: Inflammation of the cornea that is seasonal in nature.


psychogenic movement disorders

description: Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.


chickenpox

description: A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.


name: chronic myelomonocytic leukemia, non-human animal

description: Chronic myelomonocytic leukemia that occurs in non-human animals.


name: scleromyxedema without monoclonal gammopathy

description: Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.


paragangliomas 3

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.


name: ectopia lentis-chorioretinal dystrophy-myopia syndrome

description: Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.


retinitis pigmentosa 69

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


isolated microphthalmia 2

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.


name: spastic paraparesis-cataracts-speech delay syndrome


hypomyelinating leukodystrophy 13

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


name: ectodermal dysplasia 13, hair/tooth type


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

description: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.


foot rot

description: A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)


spinocerebellar ataxia type 11

description: Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.


Lafora disease

description: Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.


name: Pasteurella multocida infectious disease


Ureaplasma urethritis

description: Infections with bacteria of the genus ureaplasma.


name: primary cutaneous peripheral T-cell lymphoma not otherwise specified


name: lethal occipital encephalocele-skeletal dysplasia syndrome

description: Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.


primary ciliary dyskinesia 35

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.


nasal cavity lymphoma

description: A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.


brachyolmia

description: Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.


Sengers syndrome

description: Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.


epilepsy, dog

description: Epilepsy that occurs in dog.


lipodermatosclerosis

description: Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.


name: myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay


non-syndromic polydactyly

description: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.


Newcastle disease

description: A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.


Bardet-Biedl syndrome 22

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.


familial cutaneous collagenoma

description: Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.


Joubert syndrome 27

description: Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.


varicella zoster infection

description: A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.


name: constitutional delay of growth and puberty

description: Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.


DKC1-related disorder

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.


name: congenital nonspherocytic hemolytic anemia

description: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.


familial pseudohyperkalemia

description: An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.


IgG4-related ophthalmic disorder

description: A IgG4-related disease that involves the eye.


aseptic meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.


Singleton-Merten syndrome 2

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.


Melnick-Needles syndrome

description: A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.


name: extraoral halitosis due to methanethiol oxidase deficiency


name: lymphedema-atrial septal defects-facial changes syndrome

description: Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.


medulloblastoma WNT activated

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


name: wooly hair, autosomal recessive 1, with or without hypotrichosis


entropion, dog

description: Entropion that occurs in dog.


name: palmoplantar keratoderma i, striate, focal, or diffuse


chancre

description: The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.


male genital tuberculosis

description: Mycobacterium infections of the male reproductive tract (genitalia, male).


acute myeloid leukemia with BCR-ABL1

description: A rare, de novo acute myeloid leukemia in which the blasts harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.


name: autosomal recessive nonsyndromic hearing loss 91

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.


hereditary cerebellar ataxia

description: Cerebellar ataxia that is transmitted from parent to child.


name: autosomal recessive nonsyndromic hearing loss 16

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


name: microcephaly-seizures-intellectual disability-heart disease syndrome

description: Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.


Charcot-Marie-Tooth disease type 2B1

description: Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.


neurogenic thoracic outlet syndrome

description: Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.


name: dilated cardiomyopathy, non-human animal

description: Dilated cardiomyopathy that occurs in non-human animals.


name: immunodeficiency due to MASP-2 deficiency

description: Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.


Aicardi-Goutieres syndrome 8

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.


complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).


adult acute lymphoblastic leukemia

description: An acute lymphoblastic leukemia occurring during adulthood.


aggressive NK-cell leukemia

description: A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.


name: peroxisome biogenesis disorder, complementation group K


autosomal dominant osteopetrosis 2

description: A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).


premature ovarian failure 2A

description: Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.


name: keratosis follicularis spinulosa decalvans, X-linked


name: peroxisome biogenesis disorder due to PEX16 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.


name: spinal muscular atrophy, distal, autosomal recessive, 6


autosomal dominant omodysplasia

description: Autosomal dominant form of omodysplasia.


oxoglutaricaciduria

description: Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.


name: splenogonadal fusion-limb defects-micrognathia syndrome

description: Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.


name: Charcot-Marie-Tooth disease with ptosis and parkinsonism


name: partial duplication of the short arm of chromosome 6

description: Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.


name: non-specific autoimmune brainstem encephalitis with characteristic antibodies


name: developmental and epileptic encephalopathy, 87


name: partial duplication of the long arm of chromosome 6

description: Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.


name: developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities


placental site trophoblastic tumor

description: Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.


name: chromosome 17P13.3, telomeric, duplication syndrome


name: progressive pseudorheumatoid arthropathy of childhood

description: Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.


atrial fibrillation, familial, 4

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.


name: pulmonary hypertension, primary, autosomal recessive


manic bipolar affective disorder

description: The manic phase of bipolar disorder.


sporadic Creutzfeldt-Jakob disease

description: Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).


chromosome 21 disorder

description: Chromosomal disorder in which chromosome 21 is affected.


name: glycogen storage disease type 1 due to SLC37A4 mutation

description: Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.


Cockayne syndrome type 3

description: Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.


narcolepsy, horse

description: Narcolepsy that occurs in horse.


name: situs inversus totalis with cystic dysplasia of kidneys and pancreas


sebaceous gland disorder

description: A disease involving the sebaceous gland.


name: hemolytic poikilocytic anemia due to reduced ankyrin binding sites


name: hypoalphalipoproteinemia, primary, 2, intermediate


progressive myoclonic epilepsy type 7

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.


eumycotic mycetoma

description: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.


name: intellectual developmental disorder 60 with seizures


name: congenital adrenal hypoplasia, non-human animal

description: Congenital adrenal hypoplasia that occurs in non-human animals.


Coffin-Siris syndrome 6

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.


amyotrophic lateral sclerosis type 6

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


dyschondrosteosis-nephritis syndrome

description: Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.


name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

description: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.


Bardet-Biedl syndrome 18

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.


peroxisome biogenesis disorder 1B

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


sacrum chordoma

description: A chordoma (disease) that involves the fused sacrum.


autosomal dominant Robinow syndrome 3

description: Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.


name: developmental and epileptic encephalopathy, 65

description: An autosomal dominant form of developmental and epileptic encephalopathy, caused by mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2.


name: SLC35A2-congenital disorder of glycosylation

description: SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).


stiff skin syndrome, non-human animal

description: Stiff skin syndrome that occurs in non-human animals.


name: febrile ulceronecrotic Mucha-Habermann disease

description: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.


alopecia areata, dog

description: Alopecia areata that occurs in dog.


desmoplastic/nodular medulloblastoma

description: A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.


stiff skin syndrome

description: A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.


name: peroxisome biogenesis disorder due to PEX3 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.


name: inborn disorder of lysine, hydroxylysine, and tryptophan metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.


atrial fibrillation, familial, 12

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.


tamoxifen-related endometrial lesion

description: A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.


name: thrombophilia, familial, due to decreased release of tissue plasminogen activator


name: glycosylphosphatidylinositol biosynthesis defect 25


name: autosomal dominant nonsyndromic hearing loss 2A

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.


LCAT deficiency

description: LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.


lower limb hypertrophy

description: Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.


hereditary spastic paraplegia 61

description: A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.


Marfan syndrome, non-human animal

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


malignant essential hypertension

description: Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.


cryptorchidism, puma

description: Cryptorchidism that occurs in puma.


recurrent idiopathic neuroretinitis

description: A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.


name: autosomal recessive nonsyndromic hearing loss 103

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.


primary lymphedema

description: A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.


name: corticosteroid-sensitive aseptic abscess syndrome

description: Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.


PRPF8-related retinopathy

description: Any retinopathy caused by a variant in the PRPF8 gene.


name: cryptosporidiosis-chronic cholangitis-liver disease syndrome


name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


neurotrophic keratopathy

description: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.


spinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the spinal cord.