chronic apical periodontitis

description: Chronic form of periapical periodontitis.


rat-bite fever

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

description: An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.


hyperthyroidism, horse

description: Hyperthyroidism that occurs in horse.


adult liposarcoma

description: A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


age related macular degeneration 14

description: An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.


N syndrome

description: N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity.


name: contractures-developmental delay-Pierre Robin syndrome


name: intellectual disability-obesity-prognathism-eye and skin anomalies syndrome


name: port-wine nevi-mega cisterna magna-hydrocephalus syndrome

description: A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.


familial polycythemia

description: Polycythemia that occurs in groups of related individuals.


distal 16p11.2 microdeletion syndrome

description: Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.


name: intellectual developmental disorder, X-linked, syndromic, Pilorge type


spinocerebellar ataxia type 40

description: Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.


name: craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

description: Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.


subacute thyroiditis

description: Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.


Rombo syndrome

description: Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.


leukoplakia of gingiva

description: A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.


description: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.


lower clivus meningioma

description: A meningioma that affects the lower clivus.


name: autosomal dominant nonsyndromic hearing loss 56

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


name: nephropathy - deafness - hyperparathyroidism syndrome

description: Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.


name: congenital myasthenic syndrome with tubular aggregates

description: A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.


name: scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities


name: lethal omphalocele-cleft palate syndrome

description: Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.


achromatopsia 7

description: Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.


hearing loss, autosomal recessive

description: Autosomal recessive form of nonsyndromic deafness.


name: autosomal recessive nonsyndromic hearing loss 30

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.


name: autoimmune lymphoproliferative syndrome, domestic cat

description: Autoimmune lymphoproliferative syndrome that occurs in domestic cat.


name: hypoparathyroidism, familial isolated, 2


pyoderma, dog

description: Pyoderma that occurs in dog.


invasive non-typhoidal salmonellosis

description: Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.


name: anti-neutrophil cytoplasmic antibody-associated vasculitis

description: Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


Lowry-MacLean syndrome

description: Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.


progressive myoclonic epilepsy type 3

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.


ciliary body cancer

description: A malignant neoplasm involving the ciliary body.


name: lip herpes simplex type 2 infectious disorder

description: Any herpes simplex type 2 infectious disease that involves the lip.


hereditary narcolepsy

description: An instance of narcolepsy that is caused by an inherited genomic modification in an individual.


description: X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.


toxic oil syndrome

description: Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.


nanophthalmos 2

description: Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.


name: disseminated intravascular coagulation in newborn

description: A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.


name: dysmorphism-short stature-deafness-disorder of sex development syndrome

description: Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.


name: isolated lissencephaly type 1 without known genetic defects

description: Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.


name: infantile choroidocerebral calcification syndrome

description: This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.


mesenteric vascular occlusion

description: Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)


name: hyperphagia leading to hepatic steatosis, non-human animal

description: Hyperphagia leading to hepatic steatosis that occurs in non-human animals.


name: mitochondrial complex 2 deficiency, nuclear type 4


mixed germ cell-sex cord-stromal tumor

description: A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.


X-linked corneal dermoid

description: X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.


name: susceptibility to familial cutaneous melanoma

description: A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.


lysosomal storage disease, emu

description: Lysosomal storage disease that occurs in emu.


MYH7-related skeletal myopathy

description: Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.


osteochondrosis, raccoon dog

description: Osteochondrosis that occurs in raccoon dog.


orgasm disorder

description: A change in the ability to obtain orgasm or in the quality of the orgasmic sensation.


name: mitochondrial DNA depletion syndrome, myopathic form

description: Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.


von Willebrand disease type 2A

description: Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.


osteoarthritis, domestic guinea pig

description: Osteoarthritis that occurs in domestic guinea pig.


skull disorder

description: A non-neoplastic or neoplastic disorder that affects structures of the skull.


acquired deficiency anemia

description: An instance of deficiency anemia that is acquired during the lifetime of the individual.


keratomalacia

description: An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.


nasal cavity neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


glycogen storage disease IXa2

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.


name: developmental and epileptic encephalopathy, 67


congenital nervous system disorder

description: An abnormality of the nervous system that is present at birth or detected in the neonatal period.


name: prelingual non-syndromic genetic hearing loss

description: A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.


pachyonychia congenita 3

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.


name: fallot complex-intellectual disability-growth delay syndrome

description: Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.


name: craniosynostosis with anomalies of the cranial base and digits


name: erythrokeratodermia variabilis et progressiva 2


benign secondary hypertension

description: Mild to moderate high blood pressure that is caused by an underlying medical condition.


name: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

description: A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).


iatrogenic botulism

description: Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.


name: fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.


retinitis pigmentosa 19

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.


name: autosomal dominant nonsyndromic hearing loss 2B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.


oculoglandular tularemia

description: A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.


name: melanoma, cutaneous malignant, susceptibility to, 8

description: An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.


familial hypertryptophanemia

description: Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.


name: pyruvate dehydrogenase deficiency, non-human animal

description: Pyruvate dehydrogenase deficiency that occurs in non-human animals.


name: obesity due to prohormone convertase I deficiency

description: Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.


pachyonychia congenita

description: Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.


name: lymphoid system deterioration, progressive


Listeria meningitis

description: Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)


Hinman syndrome

description: Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.


central core myopathy, non-human animal

description: Central core myopathy that occurs in non-human animals.


craniosynostosis, non-human animal

description: Craniosynostosis that occurs in non-human animals.


benign neoplasm of hypopharynx

description: A benign neoplasm that involves the hypopharynx.


abducens nerve neoplasm

description: A neoplasm involving a abducens nerve.


hereditary amyloidosis

description: Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.


name: developmental and epileptic encephalopathy 102


thecoma

description: An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.


riboflavin transporter deficiency

description: A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.


name: acute myeloid leukemia by FAB classification

description: Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.


acute myeloid leukemia, del(5q31-q32)

description: Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)


name: GJC2-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.


proteostasis deficiencies

description: Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.


hemophilia B, horse

description: Hemophilia B that occurs in horse.


name: feline acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv).


Neu-Laxova syndrome 2

description: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.


neoplasm of femur

description: A neoplasm (disease) that involves the femur.


blastema predominant kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the predominance of the blastema component.


primary adrenal insufficiency

description: A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.


name: factor V short isoforms-related bleeding disorder


simple endometrial hyperplasia

description: A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.


name: MELAS syndrome caused by mutation in MTND6

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.


spermatogenic failure 4

description: Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.


name: intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome


peripheral neuropathy, dog

description: Peripheral neuropathy that occurs in dog.


name: acute myeloid leukemia, inv(16)(p13.1;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


solitary fibrous tumor

description: Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).


name: neurodevelopmental disorder with seizures and brain atrophy


skin sarcoma

description: A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.


name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome


name: tubular renal disease-cardiomyopathy syndrome

description: A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.


ectodermal dysplasia-blindness syndrome

description: Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.


description: Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.


beriberi

description: Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.


familial isolated congenital asplenia

description: Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.


name: epileptic encephalopathy, infantile or early childhood, 3


name: partial deletion of the short arm of chromosome 6


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 8


congenital myasthenic syndrome 18

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.


Charcot-Marie-Tooth disease type 2I

description: Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.


name: congenital disorder of glycosylation with defective fucosylation 2


name: epidermolysis bullosa simplex 1B, generalized intermediate

description: Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.


pancreatic cancer, susceptibility to, 4

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.


retroperitoneal neoplasm

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


X-linked intellectual disability

description: An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.


name: cysts and fistulae of the face and oral cavity


name: facioscapulohumeral muscular dystrophy 3, digenic


autonomic dysreflexia

description: A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)


encephalopathy, bovine spongiform

description: A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)


strabismus, non-human animal

description: Strabismus that occurs in non-human animals.


chondroblastic osteosarcoma

description: An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.


juvenile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.


atrial fibrillation, familial, 9

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.


name: EPHB4-related lymphatic-related hydrops fetalis

description: A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.


name: benign connective and soft tissue neoplasm

description: A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.


primary unilateral adrenal hyperplasia

description: Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.


FLOTCH syndrome

description: FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.


name: mixed phenotype acute leukemia with MLL rearranged

description: An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.


autosomal recessive ataxia, Beauce type

description: A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.


name: classic paraneoplastic limbic encephalitis

description: Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.


dacryocystitis, rabbit

description: Dacryocystitis that occurs in rabbit.


autosomal recessive cerebellar ataxia

description: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.


name: intellectual developmental disorder, autosomal recessive 73


name: diabetes, deafness, developmental delay, and short stature syndrome


name: Oroacral syndrome, Verloes-Koulischer type


nephronophthisis 20

description: Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.


viral pericarditis

description: Pericarditis that is caused by an infection with a viral agent.


Bardet-Biedl syndrome 19

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.


Friedreich ataxia

description: An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.


name: severe combined immunodeficiency due to IKK2 deficiency

description: Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.


polyradiculoneuropathy

description: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.


name: developmental and epileptic encephalopathy, 1

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


Minamata disease

description: A neurological syndrome caused by severe mercury poisoning.


X-linked cerebral adrenoleukodystrophy

description: A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.


endocervicitis

description: Inflammation of the endocervix.


name: hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation


atrial septal defect, non-human animal

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


name: insensitivity to pain with hyperplastic Myelinopathy


median cleft lip/mandibule

description: Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.


intracranial liposarcoma

description: A malignant adipose tissue neoplasm of the intracranial region.


name: partial duplication of the short arm of chromosome 19


name: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

description: A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.


name: twin reversal arterial perfusion syndrome


papillomatosis, florid, of nipple

description: A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.


name: thrombophilia due to protein S deficiency, autosomal recessive


entropion, rabbit

description: Entropion that occurs in rabbit.


occupational dermatitis

description: Contact dermatitis associated with allergens or irritants found in the workplace.


name: telangiectasia, hereditary hemorrhagic, type 2

description: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.


name: distal hereditary motor neuropathy type 7

description: Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.


name: tibia, hypoplasia or aplasia of, with polydactyly

description: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.


name: neuropathy, hereditary sensory and autonomic, type 2A

description: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13


name: multiple system atrophy, cerebellar type

description: Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).


pemphigus, dog

description: Pemphigus that occurs in dog.


name: liver fibrocystic disease and polydactyly


name: frontotemporal dementia, right temporal atrophy variant

description: Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.


choroidal atrophy-alopecia syndrome

description: Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.


angle-closure glaucoma

description: The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.


name: Pelizaeus-Merzbacher disease, connatal form

description: The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.


osteochondrosis, cattle

description: Osteochondrosis that occurs in cattle.


congenital nystagmus, dog

description: Congenital nystagmus that occurs in dog.


visceral botryomycosis

description: A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.


small cell sarcoma

description: A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.


name: alopecia-intellectual disability syndrome 2


vulva cancer

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


pediatric myxoid chondrosarcoma

description: A myxoid chondrosarcoma occurring in children.


urachal diverticulum

description: Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.


Pallister-W syndrome

description: A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.


dermatitis herpetiformis

description: Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.


name: familial atypical multiple mole melanoma syndrome


name: mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

description: Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.


osteoarthritis, cattle

description: Osteoarthritis that occurs in cattle.


name: hereditary sensorimotor neuropathy with hyperelastic skin


name: Leber-like hereditary optic neuropathy, autosomal recessive 1


food dermatitis

description: Dermatitis caused by an allergic reaction to ingested food.


name: craniofacial dysostosis arthrogryposis progeroid appearance


oculomaxillofacial dysostosis

description: Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.


name: hypogonadotropic hypogonadism 10 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.


ventricular septal defect, cattle

description: Ventricular septal defect that occurs in cattle.


name: qualitative or quantitative defects of delta-sarcoglycan


name: autosomal dominant nonsyndromic hearing loss 54

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.


ectasia of the right atrial appendage

description: Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.


name: isolated asymptomatic elevation of creatine phosphokinase

description: Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.


name: thrombocytopenia with elevated serum IgA and renal disease


paramyotonia congenita of Von Eulenburg

description: Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).


name: acute myeloid leukemia, loss of chromosome 17p

description: Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)


name: thickened earlobes with conductive deafness from incus-stapes abnormalities


feline lymphoma

description: A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus.


autosomal recessive bestrophinopathy

description: Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).


Aase-Smith syndrome

description: Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.


adult dermatomyositis

description: Dermatomyositis in an adult.


CERKL-related retinopathy

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


adult Krabbe disease

description: A Krabbe disease that occurs in an adult.


name: infection due to clostridium perfringens


epilepsy, progressive myoclonic, 1B

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.


name: lissencephaly with cerebellar hypoplasia type D

description: Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.


chromosome 15q24 deletion syndrome

description: 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.


mitochondrial encephalomyopathy

description: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)


name: pauci-immune glomerulonephritis with ANCA

description: Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.


ulnar hypoplasia-split foot syndrome

description: Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.


name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

description: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).


Indian tick typhus

description: An infectious disease caused by infection with rickettsia conorii subsp. coronorii.


name: intellectual disability, autosomal recessive 24


name: Prader-Willi syndrome due to translocation


non-secreting paraganglioma

description: Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.


polycystic kidney disease 4

description: A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.


extraocular retinoblastoma

description: Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.


name: hypogonadotropic hypogonadism 3 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.


hypothalamic dysfunction

description: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.


platelet storage pool deficiency

description: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.


musculoskeletal system disorder

description: A disease involving the musculoskeletal system.


leiomyomatosis

description: A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.


autoinflammatory disease, X-linked

description: An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.


perceptual disorders, non-human animal

description: Perceptual disorders that occurs in non-human animals.


hydatidiform mole, recurrent, 1

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.


tuberculous empyema

description: An empyema resulting from infection by Mycobacterium tuberculosis.


name: congenital absence of thigh and lower leg with foot present, unilateral


name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome

description: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.


name: congenital amegakaryocytic thrombocytopenia 1

description: A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.


name: severe neurodegenerative syndrome with lipodystrophy


name: shoulder and thorax deformity-congenital heart disease syndrome


name: Kniest-like dysplasia with pursed lips and ectopia lentis


feline fibrosarcoma

description: Fibrosarcoma that occurs in a cat.


secondary polycythemia

description: Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).


vaginal disorder

description: A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.


sex cord-stromal tumor

description: A neoplasm involving a sex cord.


name: autosomal recessive nonsyndromic hearing loss 44

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.


microphthalmia, chicken

description: Microphthalmia that occurs in chicken.


vaginal germ cell malignant tumor

description: A malignant germ cell tumor that involves the vagina.


pinta disease

description: An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.


name: intellectual disability-early-onset cataract-microcephaly syndrome


benign neoplasm of buccal mucosa

description: A benign neoplasm that involves the buccal mucosa.


scrotum melanoma

description: A melanoma (disease) that involves the scrotum.


laryngeal tuberculosis

description: Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.


harlequin syndrome

description: Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.


name: subaortic stenosis-short stature syndrome


heel spur

description: A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.


neurosarcoidosis

description: A sarcoidosis that involves the nervous system.


X-linked Opitz G/BBB syndrome

description: X-linked form of Opitz G/BBB syndrome.


LTBP2-related ocular dysgenesis

description: Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.


caudal appendage-deafness syndrome

description: Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.


name: spastic paraplegia 89, autosomal recessive


name: myopathy due to myoadenylate deaminase deficiency

description: An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.


spina bifida, dog

description: Spina bifida that occurs in dog.


ADAM9-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.


name: MELAS syndrome caused by mutation in MTTH

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


name: polyarticular juvenile rheumatoid arthritis


chicken bursal lymphoma

description: A malignant lymphoma that arises in the bursa of Fabricius in a chicken.


patent urachus, dog

description: Patent urachus that occurs in dog.


chronic mountain sickness

description: A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.


name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome


spinocerebellar ataxia type 32

description: Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.


Charcot-Marie-Tooth disease type 4H

description: Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy


name: epilepsy, familial focal, with variable foci 1

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.


atrophic rhinitis, cattle

description: Atrophic rhinitis that occurs in cattle.


name: autosomal dominant nonsyndromic hearing loss 31

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.


name: microcephaly-polymicrogyria-corpus callosum agenesis syndrome

description: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.


name: autosomal recessive nonsyndromic hearing loss 79

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


name: familial recurrent peripheral facial palsy


autoimmune uveitis

description: An autoimmune form of uveitis (disease).


intermediate malignant teratoma

description: An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.


cardiomyopathy, cattle

description: Cardiomyopathy that occurs in cattle.


name: chondrodysplasia situs inversus imperforate anus polydactyly


polymicrogyria, non-human animal

description: Polymicrogyria that occurs in non-human animals.


facial dermatosis

description: Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.


retinoschisis, non-human animal

description: Retinoschisis that occurs in non-human animals.


name: paternal uniparental disomy of chromosome 6

description: Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy


tibialis tendinitis

description: A tendinitis that involves the tibialis.


name: hypophosphatemic rickets, X-linked recessive

description: Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.


name: endocardial fibroelastosis and coarctation of abdominal aorta


neoplasm of aortic body

description: A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.


chromosome 11 disorder

description: Chromosomal disorder in which chromosome 11 is affected.


congenital myopathy, goat

description: Congenital myopathy that occurs in goat.


syndromic microphthalmia type 5

description: Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.


echinostomiasis

description: Infection by flukes of the genus Echinostoma.


name: congenital bilateral absence of vas deferens

description: Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.


name: congenital disorder of glycosylation with defective fucosylation 1


inborn vitamin metabolic disorder

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


osteoglophonic dwarfism

description: Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.


name: autosomal recessive spastic paraplegia type 71


name: retinal telangiectasia and hypogammaglobulinemia


commensal bacterial infectious disease

description: A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.


GABA aminotransaminase deficiency

description: Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.


Sneddon syndrome

description: Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.


diabetes insipidus, non-human animal

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


name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


name: multiple epiphyseal dysplasia, Lowry type

description: Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.


name: chromosome 19q13.11 deletion syndrome, proximal

description: Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.


polydactyly, springbok

description: Polydactyly that occurs in springbok.


Q fever

description: A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.


congenital fibrosarcoma

description: A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.


name: catecholaminergic polymorphic ventricular tachycardia 2

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.


name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone

description: A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.


name: microcephaly with simplified gyral pattern


cerebellar ataxia-hypogonadism syndrome

description: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.


name: acute myeloid leukemia, t(7;12)(q36;p13)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)


carcinoid heart disease

description: Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.


description: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.


name: neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects


name: immunodeficiency due to a classical component pathway complement deficiency


urolithiasis, Silvery lutung

description: Urolithiasis that occurs in Silvery lutung.


paratenonitis

description: Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.


chromosome 14 disorder

description: Chromosomal disorder in which chromosome 14 is affected.


ablepharon macrostomia syndrome

description: Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.


name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

description: Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.


peroxisomal acyl-CoA oxidase deficiency

description: Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.


HHV-6 encephalitis

description: HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.


ascaridiasis

description: Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.


dentin caries

description: A dental caries that involves the dentine.


polycystic kidney disease, rabbit

description: Polycystic kidney disease that occurs in rabbit.


skeletal dysplasia

description: Any Mendelian diseases that affects growth and development of the skeleton.


acute panmyelosis with myelofibrosis

description: An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.


name: microcephaly 2, primary, autosomal recessive, with or without cortical malformations


name: systemic lupus erythematosus, domestic cat

description: Systemic lupus erythematosus that occurs in domestic cat.


chondroid lipoma

description: A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.


oculomotor nerve cancer

description: A cancer involving a oculomotor nerve.


muscular dystrophy, American mink

description: Muscular dystrophy that occurs in American mink.


hyperphosphatemia, cattle

description: Hyperphosphatemia that occurs in cattle.


bilateral frontal polymicrogyria

description: Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.


name: COQ7-related distal hereditary motor neuropathy


giant cell tumor

description: A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.


polydactyly, alpaca

description: Polydactyly that occurs in alpaca.


erythropoietin polycythemia

description: Polycythemia that is caused by excess erythropoietin.


name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal

description: Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals.


name: ataxia, intention tremor, and hypotonia syndrome, childhood-onset


name: symphalangism with multiple anomalies of hands and feet

description: Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.


fundus pulverulentus

description: Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.


kidney cortex disease

description: A kidney disease that is located in the kidney cortex.


name: torsade-de-pointes syndrome with short coupling interval

description: Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.


name: autosomal dominant optic atrophy, classic form

description: One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.


infratentorial neoplasm

description: A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.


distal trisomy 7p

description: Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.


description: Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.


canine transmissible venereal tumor

description: A sexually transmitted tumor arising from histiocytes and occurring in dogs.


name: immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes


subacute lymphocytic thyroiditis

description: Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.


hereditary methemoglobinemia

description: Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.


retinitis pigmentosa 1

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.


isolated cerebellar vermis hypoplasia

description: Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.


name: lower motor neuron syndrome with late-adult onset


bone inflammation disease

description: Inflammation of the bone.


nephrotic syndrome, domestic cat

description: Nephrotic syndrome that occurs in domestic cat.


cranial nerve neuropathy

description: A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.


pyosalpinx

description: The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.


lethal congenital contracture syndrome

description: A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.


hereditary spherocytosis

description: Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.


congenital nystagmus, non-human animal

description: Congenital nystagmus that occurs in non-human animals.


name: familial omphalocele syndrome with facial dysmorphism

description: Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.


polydactyly, sheep

description: Polydactyly that occurs in sheep.


name: Shiga toxin-associated hemolytic uremic syndrome

description: A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.


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

description: A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.


name: chromosome 17q21.31 duplication syndrome

description: The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.


dysostosis

description: A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.


name: myopathy, congenital, with structured cores and z-line abnormalities


mosaic trisomy 21

description: Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.


name: ehlers-danlos syndrome, arthrochalasia type, 2


pediatric angiosarcoma

description: An angiosarcoma occurring in childhood.


name: hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain


name: familial clubfoot due to 5q31 microdeletion


name: seizures, early-onset, with neurodegeneration and brain calcifications


cartilage cancer

description: A cancer involving a cartilage tissue.


lichen sclerosus et atrophicus

description: A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.


liposarcoma of bone

description: A very rare malignant adipose tissue neoplasm that arises from the bone.


name: lethal hemolytic anemia-genital anomalies syndrome

description: Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.


name: neurodevelopmental disorder with microcephaly and dysmorphic facies


acute disease

description: Disease having a short and relatively severe course.


cervical lymphadenitis

description: Inflammation of the cervical lymph nodes.


name: Rhabdoviridae infectious disease, non-human animal

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


name: deafness peripheral neuropathy arterial disease


disappearing bone disease

description: Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.


familial thyroid dyshormonogenesis

description: A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.


mild hypophosphatasia

description: Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.


name: macular corneal dystrophy, non-human animal

description: Macular corneal dystrophy that occurs in non-human animals.


PEHO-like syndrome

description: PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.


name: heterotopia, periventricular, X-linked dominant


Wiedemann-Rautenstrauch syndrome

description: Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.


benign neoplasm of hard palate

description: A benign neoplasm that involves the hard palate.


pain agnosia

description: Loss of the ability to perceive and process pain.


name: corneal degeneration, band-shaped spheroid


name: cervical hypertrichosis-peripheral neuropathy syndrome

description: Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.


calcaneonavicular coalition

description: A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.


name: qualitative or quantitative defects of alphaB-cristallin


name: severe combined immunodeficiency due to CTPS1 deficiency

description: Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.


name: peste des petits ruminants infectious disease

description: A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.


spina bifida occulta, dog

description: Spina bifida occulta that occurs in dog.


lethal Kniest-like dysplasia

description: Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.


corticobasal syndrome

description: Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.


tetraploidy syndrome

description: The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.


name: juvenile-onset Steinert myotonic dystrophy


name: retinitis pigmentosa 87 with choroidal involvement


name: class V glucose-6-phosphate dehydrogenase deficiency


DNA repair disease

description: A disease that has its basis in the disruption of DNA repair.


pontocerebellar hypoplasia type 9

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.


name: hypoxanthine guanine phosphoribosyltransferase partial deficiency

description: Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.


name: NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability

description: A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.


isolated cryptophthalmia

description: Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.


name: symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch


name: acrodermatitis enteropathica, non-human animal

description: Acrodermatitis enteropathica that occurs in non-human animals.


name: developmental and epileptic encephalopathy, 15


Schimke immuno-osseous dysplasia

description: A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.


refractory plasma cell neoplasm

description: A plasma cell neoplasm that is resistant to treatment.


exercise-induced anaphylaxis

description: A rare disorder in which anaphylaxis occurs in association with physical activity.


CTSC-related disorder

description: Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.


granulomatous dermatitis

description: An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.


name: osteoporosis, childhood- or juvenile-onset, with developmental delay


name: behavioral variant of frontotemporal dementia

description: Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.


Lowe-Kohn-Cohen syndrome

description: Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.


Gaucher disease type II

description: Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.


inherited blood coagulation disorder

description: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.


phocomelia, Schinzel type

description: Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.


name: fibrosis, neurodegeneration, and cerebral angiomatosis


name: autosomal dominant nonsyndromic hearing loss 10

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.


infantile systemic hyalinosis

description: Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.


name: intellectual disability, X-linked, syndromic, 35


name: microcephaly 6 with or without short stature

description: Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.


substernal goiter

description: An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.


aortic aneurysm, familial thoracic 4

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.


dedifferentiated liposarcoma

description: A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.