Echinobase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 5 6 7 8 9 10 11 12 13 14 15 16 17 ???pagination.result.next???

Disease	Synonyms	Description
ataxic cerebral palsy	hypotonic cerebral palsy	A cerebral palsy that is caused by damage to the c..[+] A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. [-]
ornithine translocase deficiency	Hyperornithinemia-Hyperammonemia-Homocitrullinuria.. [+] Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome; HHH syndrome [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. [-]
tyrosinemia type I	hepatorenal tyrosinemia	A tyrosinemia that has_material_basis_in deficienc..[+] A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. [-]
vitamin B12 deficiency	hypocobalaminemia; cobalamin deficiency	A vitamin metabolic disorder that results from low..[+] A vitamin metabolic disorder that results from low blood levels of vitamin B12. [-]
congenital intrinsic factor deficiency	hereditary intrinsic factor deficiency	A vitamin B12 deficiency that is characterized by ..[+] A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [-]
spondyloepiphyseal dysplasia with congenital joint dislocations	Humerospinal Dysostosis; Humerospinal dysostosis; .. [+] Humerospinal dysostosis; Humerospinal Dysostosis; Humero-spinal dysostosis with congenital heart disease; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CHST3-Related Skeletal Dysplasia; Kozlowski Celermajer Tink syndrome; Omani Type; Spondyloepiphyseal Dysplasia [-]	A spondyloepimetaphyseal dysplasia that is charact..[+] A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [-]
urofacial syndrome	hydronephrosis with peculiar facial expression; Oc.. [+] hydronephrosis with peculiar facial expression; Ochoa syndrome [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. [-]
Troyer syndrome	hereditary spastic paraplegia 20; autosomal recess.. [+] hereditary spastic paraplegia 20; autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
MHC class I deficiency	HLA CLASS I DEFICIENCY; bare lymphocyte syndrome t.. [+] HLA CLASS I DEFICIENCY; bare lymphocyte syndrome type I; BLS, TYPE I; BLSI [-]	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. [-]
CD40 ligand deficiency	HIGMX-1; X-linked hyper-IgM syndrome	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [-]
CD40 deficiency	hyper-IgM syndrome due to CD40 deficiency; immunod.. [+] hyper-IgM syndrome due to CD40 deficiency; immunodeficiency with hyper-IgM type 3; type 3 hyper-IgM immunodeficiency [-]	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. [-]
dentatorubral-pallidoluysian atrophy	Haw River Syndrome; DRPLA; Naito-Oyanagi disease	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. [-]
Mast syndrome	hereditary spastic paraplegia 21; autosomal recess.. [+] hereditary spastic paraplegia 21; autosomal recessive spastic paraplegia 21; autosomal recessive spastic paraplegia type 21; SPG21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
MASA syndrome	hereditary spastic paraplegia 1; CRASH syndrome; G.. [+] hereditary spastic paraplegia 1; CRASH syndrome; Gareis-Mason syndrome; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked spastic paraplegia 1 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [-]
parietal foramina	hereditary cranium bifidum; Caitlin marks; enlarge.. [+] hereditary cranium bifidum; Caitlin marks; enlarged parietal foramina [-]	n_a
oral hairy leukoplakia	hairy leukoplakia	A mouth disease characterized by a white patch on ..[+] A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. [-]
agnathia-otocephaly complex	holoprosencephaly-agnathia; agnathia-holoprosencep.. [+] holoprosencephaly-agnathia; agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; otocephaly [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
acrodermatitis chronica atrophicans	Herxheimer disease; primary diffuse atrophy	An acrodermatitis characterized by a chronically p..[+] An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. [-]
lysinuric protein intolerance	hyperdibasic aminoaciduria; dibasic amino aciduria.. [+] hyperdibasic aminoaciduria; dibasic amino aciduria II; LPI [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [-]
Schnyder corneal dystrophy	hereditary crystalline stromal dystrophy of Schnyd.. [+] hereditary crystalline stromal dystrophy of Schnyder; corneal dystrophy crystalline of Schnyder; crystalline stromal dystrophy; SCCD; Schnyder crystalline corneal dystrophy [-]	n_a
posterior polymorphous corneal dystrophy	hereditary polymorphus posterior corneal dystrophy.. [+] hereditary polymorphus posterior corneal dystrophy; PPCD; Schlichting dystrophy [-]	A corneal dystrophy that is characterised by chang..[+] A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer. [-]
gingival fibromatosis	hereditary gingival hyperplasia; hereditary gingiv.. [+] hereditary gingival hyperplasia; hereditary gingival fibromatosis [-]	A gingival overgrowth characterized by benign, slo..[+] A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. [-]
Kindler syndrome	hereditary acrokeratotic poikiloderma of Kindler-W.. [+] hereditary acrokeratotic poikiloderma of Kindler-Weary; poikiloderma of Kindler [-]	A skin disease characterized by congenital blister..[+] A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. [-]
Mowat-Wilson syndrome	Hirschsprung disease mental retardation syndrome; .. [+] Hirschsprung disease mental retardation syndrome; microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease [-]	A syndrome characterized by a distinct facial phen..[+] A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. [-]
familial hypocalciuric hypercalcemia 1	HHC1; hypocalciuric hypercalcemia type I; familial.. [+] hypocalciuric hypercalcemia type I; HHC1; familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia type I; FHH type 1 [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. [-]
familial hypocalciuric hypercalcemia 2	HHC2; hypocalciuric hypercalcemia type II; familia.. [+] hypocalciuric hypercalcemia type II; HHC2; familial hypocalciuric hypercalcemia type 2; FHH type 2 [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
familial hypocalciuric hypercalcemia 3	HHC3; hypocalciuric hypercalcemia type III; famili.. [+] hypocalciuric hypercalcemia type III; HHC3; familial hypocalciuric hypercalcemia type 3; FHH type 3 [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. [-]
autosomal recessive congenital ichthyosis 4B	harlequin type ichthyosis fetalis; harlequin type .. [+] harlequin type ichthyosis fetalis; harlequin type ichthyosis congenita; harlequin ichthyosis; ARCI4B [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 11	hypotrichosis-congenital ichthyosis syndrome; auto.. [+] hypotrichosis-congenital ichthyosis syndrome; autosomal recessive ichthyosis with hypotrichosis; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-hypotrichosis syndrome; IFAH syndrome; IHS [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. [-]
junctional epidermolysis bullosa Herlitz type	Herlitz-Pearson-type epidermolysis bullosa; Herlit.. [+] Herlitz-Pearson-type epidermolysis bullosa; Herlitz type epidermolysis bullosa junctionalis; epidermolysis bullosa letalis; JEB-H; JEB-Herlitz type; junctional epidermolysis bullosa generalisata gravis; junctional epidermolysis bullosa, Herlitz-Pearson type [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. [-]
immunodeficiency with hyper-IgM type 2	HIGM2; hyper-IgM syndrome type 2; activation-induc.. [+] hyper-IgM syndrome type 2; HIGM2; activation-induced cytidine deaminase deficiency; AID deficiency [-]	A hyper IgM syndrome that is characterized by norm..[+] A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. [-]
immunodeficiency with hyper IgM type 5	hyper-IgM syndrome due to uracil N-glycosylase; hy.. [+] hyper-IgM syndrome due to uracil N-glycosylase; hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome 5; HIGM5 [-]	A hyperimmunoglobulin syndrome characterized by no..[+] A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. [-]
immunodeficiency with hyper-IgM type 4	hyper-IgM syndrome type 4; HIGM4	A hyperimmunoglobulin syndrome characterized by no..[+] A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. [-]
restrictive dermopathy	hyperkeratosis-contracture syndrome; lethal restri.. [+] hyperkeratosis-contracture syndrome; lethal restrictive dermopathy; tight skin contracture syndrome; Infantile restrictive dermopathy; Lethal tight skin contracture syndrome [-]	A skin disease characterized by thin, tightly adhe..[+] A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. [-]
syndromic X-linked intellectual disability type 10	HSD10 disease, atypical type; HSD10 deficiency, at.. [+] HSD10 disease, atypical type; HSD10 deficiency, atypical type; mental retardation, X-linked syndromic 10; MRXS10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. [-]
Griscelli syndrome type 1	hypopigmentation-neurologic impairment syndrome; G.. [+] hypopigmentation-neurologic impairment syndrome; Griscelli syndrome with neurological impairment; Griscelli syndrome, cutaneous and neurological type; Griscelli-PruniÃ©ras syndrome type 1; GS1; Griscelli-Prunieras syndrome type 1 [-]	A Griscelli syndrome characterized by silvery gray..[+] A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. [-]
Griscelli syndrome type 2	hypopigmentation-immunodeficiency with or without .. [+] hypopigmentation-immunodeficiency with or without neurologic impairment syndrome; Griscelli syndrome with hemophagocytic syndrome; Griscelli-PruniÃ©ras syndrome type 2; GS2; PAID syndrome; partial albinism and immunodeficiency syndrome [-]	A Griscelli syndrome characterized by silvery gray..[+] A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. [-]
primary hypomagnesemia	HOMG; primary familial hypomagnesemia	A metal metabolism disorder characterized by very ..[+] A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. [-]
renal hypomagnesemia 3	HOMG3; familial primary hypomagnesemia with hyperc.. [+] HOMG3; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium; renal hypomagnesemia type 3 [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
renal hypomagnesemia 5 with ocular involvement	hypercalciuria-bilateral macular coloboma syndrome.. [+] hypercalciuria-bilateral macular coloboma syndrome; bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
renal hypomagnesemia 4	HOMG4	A hypomagnesemia characterized by isolated hypomag..[+] A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in variation in the chromosome region 4q25. [-]
intestinal hypomagnesemia 1	hypomagnesemic tetany; hypomagnesemia intestinal t.. [+] hypomagnesemic tetany; hypomagnesemia intestinal type 1; hypomagnesemia caused by selective magnesium malabsorption; HOMG1; intestinal hypomagnesemia with secondary hypocalcemia; primary hypomagnesemia with secondary hypocalcemia [-]	A hypomagnesemia characterized by very low serum m..[+] A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. [-]
renal hypomagnesemia 6	HOMG6	A hypomagnesemia characterized by autosomal domina..[+] A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. [-]
renal hypomagnesemia 2	HOMG2; autosomal dominant primary hypomagnesemia w.. [+] HOMG2; autosomal dominant primary hypomagnesemia with hypocalciuria [-]	A hypomagnesemia characterized by autosomal domina..[+] A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. [-]
osteopathia striata with cranial sclerosis	hyperostosis generalisata with striations; Robinow.. [+] hyperostosis generalisata with striations; Robinow-Unger syndrome [-]	An osteosclerosis characterized by longitudinal st..[+] An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. [-]
CST3-related cerebral amyloid angiopathy	Hereditary Cerebral Hemorrhage with Amyloidosis; H.. [+] Hereditary Cerebral Hemorrhage with Amyloidosis; HCHWA; Amyloidosis VI; Amyloidosis, Cerebroarterial, Icelandic Type; Cerebral Hemorrhage, Hereditary, with Amyloidosis [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21. [-]
APP-related cerebral amyloid angiopathy	HCHWAD; Amyloidosis, Cerebroarterial, App-Related; .. [+] HCHWAD; Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Italian Variant [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. [-]
ITM2B-related cerebral amyloid angiopathy 2	Heredopathia Ophthalmootoencephalica; HOOE; Cerebe.. [+] HOOE; Heredopathia Ophthalmootoencephalica; Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Familial Danish Dementia; FDD [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. [-]
familial hyperinsulinemic hypoglycemia 7	hyperinsulinism due to SLC16A1 deficiency; hyperin.. [+] hyperinsulinism due to SLC16A1 deficiency; hyperinsulinism due to monocarboxylate transporter 1 deficiency; HHF7; EIHI; exercise-induced hyperinsulinemic hypoglycemia; exercise-induced hyperinsulinism [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. [-]
vertebral anomalies and variable endocrine and T-cell dysfunction	heterozygotes for TBX2 variants	A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. [-]

???pagination.result.page??? ???pagination.result.prev??? 5 6 7 8 9 10 11 12 13 14 15 16 17 ???pagination.result.next???