name: short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

description: Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).


name: developmental delay, behavioral abnormalities, and neuropsychiatric disorders

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


name: persistent Mullerian duct syndrome, goat

description: Persistent Mullerian duct syndrome that occurs in goat.


name: congenital heart disease ptosis hypodontia craniostosis


cardiomyopathy, hedgehogs

description: Cardiomyopathy that occurs in hedgehogs.


epidermolysis bullosa simplex

description: Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.


ectrodactyly-polydactyly syndrome

description: A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.


name: autosomal recessive nonsyndromic hearing loss 29

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.


benign neoplasm of penis

description: A benign neoplasm that involves the penis.


name: chronic demyelinizing neuropathy with IgM monoclonal


name: inborn disorder of the gamma-glutamyl cycle


name: polycystic kidney, cataract, and congenital blindness


name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


name: mitochondrial complex III deficiency nuclear type 5

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.


description: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.


name: agammaglobulinemia 7, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.


disorder of GPI anchor biosynthesis

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


name: mitochondrial complex 1 deficiency, nuclear type 33


focal epithelial hyperplasia

description: Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.


name: ataxia - deafness - intellectual disability syndrome

description: This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.


name: rapidly progressive primary central nervous system vasculitis

description: A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.


name: Sjogren-Larsson-like ichthyosis without CNS or eye involvement


name: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


trachea sarcoma

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


holoprosencephaly, pig

description: Holoprosencephaly that occurs in pig.


joint laxity, familial

description: A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.


name: obesity, hyperphagia, and developmental delay


cleft palate-lateral synechia syndrome

description: Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.


retinal melanoma

description: A melanoma affecting the retinal portion of the eye. --2003


name: dyskeratosis congenita, autosomal recessive 2

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.


name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy


pulmonary hypertension, cattle

description: Pulmonary hypertension that occurs in cattle.


acquired epidermolysis bullosa

description: Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.


hypomyelinating leukodystrophy 5

description: Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.


name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


name: intellectual disability, autosomal dominant 55, with seizures


chromosome 22 disorder

description: Chromosomal disorder in which chromosome 22 is affected.


heart-hand syndrome type 3

description: Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.


transitional meningioma

description: A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.


myoclonus, non-human animal

description: Myoclonus that occurs in non-human animals.


uterine carcinosarcoma

description: A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.


name: hereditary sensory and autonomic neuropathy with deafness and global delay

description: This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.


name: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

description: An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.


neuropathy, hereditary sensory, type 1F

description: Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.


name: severe X-linked intellectual disability, Gustavson type

description: Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.


respiratory system cancer

description: A malignant neoplasm involving the respiratory system


odontotrichomelic syndrome

description: Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.


name: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

description: An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.


hypotrichosis 8

description: Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.


nemaline myopathy 8

description: An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.


alpha-mannosidosis, domestic guinea pig

description: Alpha-mannosidosis that occurs in domestic guinea pig.


Pelger-Huet anomaly, non-human animal

description: Pelger-Huet anomaly that occurs in non-human animals.


name: multiple epiphyseal dysplasia, Al-Gazali type

description: Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.


name: developmental and epileptic encephalopathy, 57


Seckel syndrome 4

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


name: congenital heart defects, multiple types, 2

description: Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.


Bosley-Salih-Alorainy syndrome

description: Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.


root caries

description: Dental caries involving the tooth root, cementum, or cervical area of the tooth.


nocturnal paroxysmal dystonia

description: A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.


prosthesis-related infectious disease

description: A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.


name: inborn disorder of pentose phosphate metabolism


name: combined pituitary hormone deficiencies, genetic form

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


familial atrial fibrillation

description: An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.


name: autosomal recessive distal spinal muscular atrophy 1

description: Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.


Niemann-Pick disease, type C2

description: Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.


name: hypomagnesemia 7, renal, with or without dilated cardiomyopathy


Larsen syndrome

description: Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.


acquired factor X deficiency

description: An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.


arbovirus fever

description: Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.


cauda equina cancer

description: A cancer that involves the cauda equina.


name: endometrioid stromal sarcoma of the vagina

description: A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.


uterine corpus adenosarcoma

description: A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.


name: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

description: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.


eye neoplasm

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


focal facial dermal dysplasia

description: Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.


description: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.


name: short stature due to growth hormone qualitative anomaly

description: Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.


sick sinus syndrome 1

description: Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.


mosaic translocation Down syndrome

description: Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.


vitiligo, domestic cat

description: Vitiligo that occurs in domestic cat.


isolated microphthalmia 7

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.


description: X-linked form of Dyggve-Melchior-Clausen disease.


congenital anemia

description: Anemia, the cause of which is present at birth.


name: chromosome 3q29 microduplication syndrome

description: 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.


name: post-bacterial disorder, non-human animal

description: Post-Bacterial disorder that occurs in non-human animals.


name: optic atrophy 10 with or without ataxia, intellectual disability, and seizures


name: spinocerebellar atrophy with pupillary paralysis


name: hypodontia/oligodontia with orofacial cleft


name: cleft lip palate oligodontia syndactyly pili torti


name: disorder of mineral absorption and transport


acromegaloid facial appearance syndrome

description: Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.


chromosome 9p deletion syndrome

description: Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.


name: multiple congenital anomalies due to 14q32.2 imprinting defect

description: Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including "coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).


name: autosomal recessive extra-oral halitosis


name: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).


16p12.1p12.3 triplication syndrome

description: 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.


sublingual gland neoplasm

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


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4B

description: Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.


malignant testicular germ cell tumor

description: A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.


name: hyperlipidemia due to hepatic triglyceride lipase deficiency

description: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.


microtriplication 11q24.1

description: Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.


name: CDH1-related diffuse gastric and lobular breast cancer syndrome

description: Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.


Orthocoronavirinae infectious disease

description: Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.


benign neoplasm of lip

description: A benign neoplasm that involves the lip.


familial hyperaldosteronism type III

description: Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.


thyrocerebrorenal syndrome

description: Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.


name: basal ganglia calcification, idiopathic, 7, autosomal recessive


autoimmune progesterone dermatitis

description: Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.


name: acute encephalopathy with biphasic seizures and late reduced diffusion

description: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.


atypical Rett syndrome

description: A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).


spinocerebellar ataxia type 27

description: Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.


Leber congenital amaurosis 5

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.


gastrointestinal allergy

description: A allergic disease that involves the digestive tract.


name: developmental and epileptic encephalopathy, 35


CARASIL syndrome

description: CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.


syringomyelia, cattle

description: Syringomyelia that occurs in cattle.


name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity


nephronophthisis 16

description: Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.


vasoproliferative tumor of retina

description: Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.


syndromic orbital border hypoplasia

description: Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.


cervical carcinosarcoma

description: A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


name: congenital merosin-deficient muscular dystrophy 1A

description: Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.


germinomatous germ cell tumor

description: A term that refers to germinoma, seminoma, or dysgerminoma.


primary ciliary dyskinesia 21

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.


dysautonomia, rabbit

description: Dysautonomia that occurs in rabbit.


name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome


wooly hair, autosomal recessive 3

description: Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.


hypomyelinating leukodystrophy 9

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


digital dermatitis in cattle

description: Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.


name: OPA1-related optic atrophy with or without extraocular features

description: Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.


microphthalmia, syndromic 11

description: Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.


secondary Parkinson disease

description: A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.


Shwachman-Diamond syndrome 2

description: Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).


name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


anterior ischemic optic neuropathy

description: Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.


spinocerebellar ataxia 43

description: Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.


name: mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.


hypertrichosis, dog

description: Hypertrichosis that occurs in dog.


cardioectodermal syndrome

description: Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.


childhood kidney angiomyolipoma

description: An angiomyolipoma occurring in childhood.


hyperekplexia 2

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


name: autosomal recessive nonsyndromic hearing loss 23

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.


name: acute myeloid leukemia, t(11;19)(q23.3;p13.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)


Meier-Gorlin syndrome

description: Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).


schizophreniform disorder

description: A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.


retinitis pigmentosa 33

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.


name: atypical hemolytic-uremic syndrome with thrombomodulin anomaly


sympathetic ophthalmia

description: Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.


cutaneous syphilis

description: Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)


congenital aortic valve stenosis

description: Aortic valve stenosis that is present at birth.


juvenile xanthogranuloma

description: A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.


choroiditis

description: An inflammatory process that affects the choroid.


benign osteogenic neoplasm

description: A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.


name: rhabdomyosarcoma with mixed embryonal and alveolar features

description: A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.


acquired fructose intolerance

description: Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.


description: A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.


name: immunodeficiency 80 with or without congenital cardiomyopathy

description: An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.


holoprosencephaly, sheep

description: Holoprosencephaly that occurs in sheep.


name: intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities


name: subvalvular aortic stenosis, non-human animal

description: Subvalvular aortic stenosis that occurs in non-human animals.


description: Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.


tuberculous oophoritis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.


2q33.1 microdeletion syndrome

description: 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.


extratemporal epilepsy

description: An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.


megacolon, rabbit

description: Megacolon that occurs in rabbit.


name: partial deletion of the long arm of chromosome 11

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.


focal, segmental or multifocal dystonia

description: A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.


benign metastasizing leiomyoma

description: A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.


name: melanoma, cutaneous malignant, susceptibility to, 3


distal monosomy 14q

description: Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.


name: syndromic X-linked intellectual disability Raymond type

description: A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.


name: acquired thrombotic thrombocytopenic purpura

description: Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


lymphangiosarcoma, dog

description: Lymphangiosarcoma that occurs in dog.


multiminicore myopathy

description: A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.


Nathalie syndrome

description: Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.


name: lethal polymalformative syndrome, Boissel type


name: isolated growth hormone deficiency type III


geleophysic dysplasia 2

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.


description: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.


Krabbe disease, Rhesus monkey

description: Krabbe disease that occurs in Rhesus monkey.


vaginal adenosarcoma

description: A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.


Bartholin's gland disease

description: A female reproductive system disease that is located in Bartholin's gland.


cerebral amyloid angiopathy, dog

description: Cerebral amyloid angiopathy that occurs in dog.


name: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts


familial antiphospholipid syndrome

description: Autosomal dominant form of antiphospholipid syndrome.


name: palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


Bardet-Biedl syndrome 7

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.


description: Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.


symbrachydactyly of hands and feet

description: A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.


classic galactosemia

description: Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


name: non-syndromic unicoronal and sagittal craniosynostosis


name: neonatal period electroclinical syndrome

description: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.


retinitis pigmentosa Y-linked

description: Y-linked form of retinitis pigmentosa.


sialidosis type 1

description: Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.


gangliosidosis, domestic cat

description: Gangliosidosis that occurs in domestic cat.


GPR179-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.


neurofibromatosis type 1

description: A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.


papillary meningioma

description: A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.


name: residual stage corticosteroid-induced glaucoma


name: dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

description: An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.


congenital urachal anomaly

description: Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.


name: autosomal dominant intermediate Charcot-Marie-Tooth disease

description: Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.


name: succinic semialdehyde dehydrogenase deficiency, dog

description: Succinic semialdehyde dehydrogenase deficiency that occurs in dog.


renal nutcracker syndrome

description: A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.


name: developmental and epileptic encephalopathy 101


metastatic melanoma

description: A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.


spermatogenic failure

description: A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.


chronic venous insufficiency

description: Chronic form of venous insufficiency (disease).


name: ectodermal dysplasia with natal teeth, Turnpenny type

description: Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.


name: hydrocephalus, congenital communicating, 1


nerve plexus disorder

description: A disease that involves the nerve plexus.


acute salpingo-oophoritis

description: Acute form of salpingo-oophoritis.


name: spondylometaphyseal dysplasia, Schmidt type

description: Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.


eccrine sweat gland cancer

description: An cancer with eccrine differentiation arising from the sweat glands.B


diastrophic dysplasia

description: Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).


retinitis pigmentosa 32

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.


angiomyomatous hamartoma

description: An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.


name: bone fragility with contractures, arterial rupture, and deafness

description: A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.


cerebral sinovenous thrombosis

description: A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.


name: developmental and epileptic encephalopathy, 78


advanced heart failure

description: Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.


T-B- severe combined immunodeficiency

description: T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


name: posterior polymorphous corneal dystrophy 2

description: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


name: double outlet right ventricle with subpulmonary ventricular septal defect


nephronophthisis 2

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


myositis ossificans

description: A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.


name: neurodevelopmental disorder with impaired speech and hyperkinetic movements


horse melanoma

description: Melanoma that occurs in a horse.


name: intellectual disability, autosomal recessive 50

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.


optic tract meningioma

description: A meningioma that affects the visual pathway.


basidiobolomycosis

description: A disease caused by infection with Basidiobolus.


name: congenital disorder of glycosylation, type IIw


name: dysmorphism-conductive hearing loss-heart defect syndrome

description: A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.


name: intellectual disability-short stature-hypertelorism syndrome

description: Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.


familial pityriasis rubra pilaris

description: A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.


name: arthrogryposis, renal dysfunction, and cholestasis 2

description: Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.


name: hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9


name: autosomal dominant osteosclerosis, Worth type

description: A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 3

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


frontorhiny

description: Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.


acquired Creutzfeldt-Jakob disease

description: An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.


ischemic neuropathy

description: Neuropathy that is caused by inadequate blood supply.


CNS demyelinating autoimmune disease

description: Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.


name: acute myeloid leukemia, t(1;22)(p13;q13)

description: An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.


name: microcephalic osteodysplastic dysplasia, Saul-Wilson type

description: A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.


congenital myasthenic syndrome 3A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.


name: NR2F2 related multiple congenital anomalies/dysmorphic syndrome

description: A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.


carcinosarcoma

description: A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.


ataxic cerebral palsy

description: A form of cerebral palsy caused by damage to cerebellar structures.


cadmium poisoning

description: Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.


name: congenitally uncorrected transposition of the great arteries with cardiac malformation


name: autosomal dominant nonsyndromic hearing loss 18

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.


retinitis pigmentosa 40

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.


name: PLG-related hereditary angioedema with normal C1inh


discharging ear

description: Discharge or drainage of fluid from the ear.


Duane syndrome type 1

description: Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.


name: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

description: This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).


name: mandibulofacial dysostosis, non-human animal

description: Mandibulofacial dysostosis that occurs in non-human animals.


peroxisome biogenesis disorder 6B

description: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


hereditary spastic paraplegia 7

description: Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 1

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.


cleft palate, American mink

description: Cleft palate that occurs in American mink.


name: microcephalic primordial dwarfism due to ZNF335 deficiency

description: Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.


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

description: Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.


name: craniosynostosis intellectual disability heart defects


thrombocytopenia, dog

description: Thrombocytopenia that occurs in dog.


patent urachus, non-human animal

description: Patent urachus that occurs in non-human animals.


name: myasthenic syndrome, congenital, 1B, fast-channel

description: A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.


childhood neoplasm

description: A benign or malignant neoplasm arising during childhood.


adrenal cortex disorder

description: A disease involving the adrenal cortex.


name: autosomal recessive nonsyndromic hearing loss 26

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.


thrombocythemia 3

description: Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.


spinal stenosis, cattle

description: Spinal stenosis that occurs in cattle.


name: MOGS-congenital disorder of glycosylation

description: MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).


orbital cancer

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


name: hereditary progressive chorea without dementia


benign deep fibrous histiocytoma

description: A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.


benign neoplasm of submandibular gland

description: A benign neoplasm that involves the submandibular gland.


name: ichthyosis, congenital, autosomal recessive 13


tinea corporis

description: A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.


ring chromosome 15

description: Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.


name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal


Imerslund-Grasbeck syndrome

description: Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


extraosseous osteosarcoma

description: An osteosarcoma arising from the soft tissue.


vulvar alveolar soft part sarcoma

description: An alveolar soft part sarcoma arising from the vulva.


microcephaly, non-human animal

description: Microcephaly that occurs in non-human animals.


name: bile acid CoA:amino acid N-acyltransferase deficiency

description: Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.


immunodeficiency 39

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.


glottis neoplasm

description: A benign or malignant neoplasm that affects the glottic area of the larynx.


hypospadias, sheep

description: Hypospadias that occurs in sheep.


hand-Schuller-Christian disease

description: A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.


name: Niemann-Pick disease type C, severe perinatal form


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


vitiligo, chicken

description: Vitiligo that occurs in chicken.


Krabbe disease

description: A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.


Astrakhan spotted fever

description: An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.


disease of orbital part of eye adnexa

description: Diseases of the bony orbit and contents except the eyeball.


mucous membrane pemphigoid

description: Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.


description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.


hereditary macular dystrophy

description: Macular dystrophy that is related to a change in a gene.


name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

description: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.


upper digestive tract disorder

description: A disease or disorder that involves the upper digestive tract.


idiopathic aplastic anemia

description: Aplastic anemia without a known cause.


antidepressant type abuse

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


lethal recessive chondrodysplasia

description: Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.


canine osteosarcoma

description: An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.


pyomyositis

description: Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.


hantavirus infectious disease

description: Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.


acrofacial dysostosis, Catania type

description: Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.


cone-rod dystrophy 11

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.


name: partial duplication of the long arm of chromosome 10


name: familial episodic pain syndrome with predominantly upper body involvement


choanal atresia, unilateral

description: Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.


name: acute myeloid leukemia with multilineage dysplasia

description: An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.


severe hemophilia B

description: Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


parenchymatous neurosyphilis

description: A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.


Currarino triad

description: Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).


name: spastic paraplegia, optic atropy, and neuropathy

description: A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.


impetigo

description: A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.


name: disorder of sex development-intellectual disability syndrome

description: A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.


NTRK fusion positive cancer

description: Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.


Dandy-Walker syndrome, non-human animal

description: Dandy-Walker syndrome that occurs in non-human animals.


name: ganglion or cyst of synovium/tendon/bursa


centronuclear myopathy

description: Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.


name: juvenile arthritis due to defect in LACC1


name: peroxisome biogenesis disorder 8A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.


Castleman disease

description: Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.


name: neurodevelopmental disorder with microcephaly and structural brain anomalies


name: neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities


peroxisome biogenesis disorder 4B

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


Fine-Lubinsky syndrome

description: A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.


nephronophthisis 13

description: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.


atrial tachycardia

description: A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)


renal dysplasia, horse

description: Renal dysplasia that occurs in horse.


trisomy 18

description: Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.


name: blepharophimosis - intellectual disability syndrome, Ohdo type

description: Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.


TH-deficient dopa-responsive dystonia

description: Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.


name: mitochondrial complex 4 deficiency, nuclear type 7


ventricular septal defect 2

description: Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.


central nervous system chondroma

description: An extraskeletal chondroma usually arising from the dura.


gonococcal seminal vesiculitis

description: A gonorrhea that involves the seminal vesicle.


prostate lymphoma

description: A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.


name: immunodeficiency 97 with autoinflammation

description: An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.


name: congenital myopathy 21 with early respiratory failure


name: hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome


name: partial deletion of the short arm of chromosome 19


situs inversus, cattle

description: Situs inversus that occurs in cattle.


cataract 46 juvenile-onset

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.


name: hereditary myopathy with lactic acidosis due to ISCU deficiency

description: Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.


sphenoid sinusitis

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


name: blepharophimosis, ptosis, and epicanthus inversus syndrome

description: Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).


Miyoshi muscular dystrophy 1

description: Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.


demyelinating disease

description: A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.


KIF1A related neurological disorder

description: KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A


name: arthrogryposis, congenital, lower limb, X-linked


Birt-Hogg-Dube syndrome 2

description: Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.


name: Schistosoma intercalatum infectious disease

description: An disease or disorder caused by infection with Schistosoma intercalatum.


maxillary sinus cholesteatoma

description: A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.


sexual sadism disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.


paraneoplastic cutaneous syndrome

description: Paraneoplastic syndrome that involves the integumental system.


name: chronic thromboembolic pulmonary hypertension

description: Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.


post-vaccinal encephalitis

description: An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)


athyreosis

description: Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


name: branchial arch disease, non-human animal

description: Branchial arch disease that occurs in non-human animals.


syndactyly, chicken

description: Syndactyly that occurs in chicken.


name: spastic paraplegia 84, autosomal recessive


name: growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia


galactosialidosis, dog

description: Galactosialidosis that occurs in dog.


bone remodeling disease

description: A bone disease that results in formation or resorption abnormalities located in bone.


malignant tumor of palpebral epidermis

description: A cancer that involves the skin of eyelid.


name: lipodystrophy, congenital generalized, type 5


name: XY type gonadal dysgenesis-associated anomalies syndrome

description: Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.


name: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive


name: autosomal systemic lupus erythematosus type 16

description: An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.


spinal muscular atrophy, cattle

description: Spinal muscular atrophy that occurs in cattle.


Fanconi anemia complementation group T

description: Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.


alexia without agraphia

description: Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)


childhood-onset epilepsy syndrome

description: A epilepsy syndrome that occurs during childhood.


lobomycosis

description: A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.


name: intralobar congenital pulmonary sequestration


diffuse leptomeningeal melanocytosis

description: Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.


priapism, dog

description: Priapism that occurs in dog.


name: leukemia, acute lymphocytic, susceptibility to, 2


diphtheritic cystitis

description: A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.


pseudoaminopterin syndrome

description: Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.


idiopathic syringomyelia

description: Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.


name: amyotrophic lateral sclerosis-parkinsonism-dementia complex


name: alpha thalassemia-intellectual disability syndrome type 1

description: Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.


bird disease

description: Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.


superior limbic keratoconjunctivitis

description: Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.


Armfield syndrome

description: X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.


plastic bronchitis

description: A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.


BEST1-related vitreoretinochoroidopathy

description: Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.


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


deltaretrovirus infections

description: Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).


hereditary neurocutaneous angioma

description: Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant.


SCN4A-related channelopathy

description: Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.


name: autosomal recessive complex spastic paraplegia type 9B

description: Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


name: alopecia-intellectual disability syndrome 1


dentin dysplasia type II

description: Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.


protoporphyria, chicken

description: Protoporphyria that occurs in chicken.


name: dwarfism, low-birth-weight type, with unresponsiveness to growth hormone