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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Galloway-Mowat syndrome 5
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A Galloway-Mowat syndrome that has_material_basis_.. [+]
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13.
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Gamstorp-Wohlfart syndrome
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autosomal recessive neuromyotonia and axonal neuro..
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autosomal recessive neuromyotonia and axonal neuropathy; myokymia, myotonia and muscle wasting;
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A syndrome characterized by progressive weakness a.. [+]
A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
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1 articles
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Gasserian ganglion meningioma
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meningioma of Gasserian Ganglion;
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n_a
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Gaucher's disease
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glocucerebrosidase deficiency; kerasin thesaurismo..
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glocucerebrosidase deficiency; kerasin thesaurismosis; lipoid histiocytosis (kerasin type); glucosylceramide beta-glucosidase deficiency; acid beta-glucosidase deficiency; Gaucher disease;
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A sphingolipidosis characterized by deficiency of .. [+]
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
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Gaucher's disease perinatal lethal
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Fetal Gaucher Disease; Gaucher Disease, Collodion ..
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Fetal Gaucher Disease; Gaucher Disease, Collodion Type;
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A Gaucher's Disease characterized by perinatal let.. [+]
A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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Gaucher's disease type I
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Gaucher Disease, Noncerebral Juvenile; Gba Deficie..
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Gaucher Disease, Noncerebral Juvenile; Gba Deficiency; GD I; Acid Beta-Glucosidase Deficiency; Glucocerebrosidase Deficiency; GD1;
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A Gaucher's disease characterized by absence of pr.. [+]
A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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Gaucher's disease type II
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Infantile Cerebral Gaucher Disease; Gaucher Diseas..
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Infantile Cerebral Gaucher Disease; Gaucher Disease, Acute Neuronopathic Type; GD II; GD2;
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A Gaucher's disease characterized by rapid neurolo.. [+]
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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Gaucher's disease type III
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GD III; Gaucher Disease, Subacute Neuronopathic Ty..
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GD III; Gaucher Disease, Subacute Neuronopathic Type; Gaucher Disease, Juvenile And Adult, Cerebral; Gaucher Disease, Chronic Neuronopathic Type;
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A Gaucher's disease characterized by later onset a.. [+]
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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Gaucher's disease type IIIC
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cardiovascular Gaucher disease; Gaucher disease ty..
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cardiovascular Gaucher disease; Gaucher disease type 3C; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher-like disease; GD3C;
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A Gaucher's disease type III characterized by addi.. [+]
A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.
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Gerstmann syndrome
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Aphasia-angular gyrus syndrome;
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A nervous system disease that results_from damage .. [+]
A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.
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Gerstmann-Straussler-Scheinker syndrome
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Gerstmann-Straussler-Scheinker disease; PRION DEME..
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Gerstmann-Straussler-Scheinker disease; PRION DEMENTIA;
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A prion disease characterized by adult onset of me.. [+]
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
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Ghosal hematodiaphyseal syndrome
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diaphyseal dysplasia-anemia syndrome; Ghosal hemat..
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diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia; Ghosal syndrome;
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A syndrome characterized by increased bone density.. [+]
A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.
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Gilbert syndrome
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Constitutional hyperbilirubinemia; Gilbert's disea..
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Constitutional hyperbilirubinemia; Gilbert's disease; Gilbert-Meulengracht syndrome; Gilbert's syndrome; hereditary nonhemolytic jaundice;
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A bilirubin metabolic disorder that involves eleva.. [+]
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
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Gilles de la Tourette syndrome
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Guinon's disease; motor-verbal tic disorder; Psych..
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Guinon's disease; motor-verbal tic disorder; Psychogenic tics; Tourette syndrome;
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A tic disorder that is characterized by multiple p.. [+]
A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
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1 articles
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Gillespie syndrome
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aniridia-cerebellar ataxia-intellectual disability..
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aniridia-cerebellar ataxia-intellectual disability syndrome; GLSP; aniridia, cerebellar ataxia and mental deficiency;
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A syndrome characterized by iris hypoplasia, conge.. [+]
A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.
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Gitelman syndrome
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HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W..
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HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA;
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A renal tubular transport disease that is has_mate.. [+]
A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
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5 articles
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Glanzmann's thrombasthenia
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BDPLT2; deficiency of platelet fibrinogen receptor..
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BDPLT2; deficiency of platelet fibrinogen receptor; Glycoprotein IIb/IIIa defect; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia; deficiency of glycoprotein complex IIb-IIIa; platelet glycoprotein IIb-IIIa deficiency; deficiency of GP IIb-IIIa complex; Glanzmann thrombasthenia; platelet-type bleeding disorder 2;
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A blood coagulation disease characterized by autos.. [+]
A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
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Goldberg-Shprintzen syndrome
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Goldberg-Shprintzen megacolon syndrome;
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A syndrome characterized by intellectual disabilit.. [+]
A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
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Goldenhar syndrome
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Facio-auriculo-vertebral spectrum (disorder); Firs..
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Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); HEMIFACIAL MICROSOMIA; Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; Facio-auriculo-vertebral spectrum; First arch syndrome; Otomandibular dysostosis;
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A syndrome that is characterized by incomplete dev.. [+]
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
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1 articles
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Good syndrome
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thymoma with hypogammaglobulinemia;
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A combined T cell and B cell immunodeficiency that.. [+]
A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
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Goodpasture syndrome
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anti-glomerular basement membrane disease; anti-GB..
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anti-glomerular basement membrane disease; anti-GBM disease;
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An autoimmune disease that is characterized by ant.. [+]
An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.
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Gordon Holmes syndrome
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CAHH; LHRH deficiency and ataxia; cerebellar ataxi..
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CAHH; LHRH deficiency and ataxia; cerebellar ataxia-hypogonadism syndrome; GDHS; luteinizing hormone-releasing hormone deficiency with ataxia;
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An inherited metabolic disorder characterized by p.. [+]
An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.
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Gorham's disease
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Disappearing bone disease (disorder); essential os..
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Disappearing bone disease (disorder); essential osteolysis; Gorham disease; massive osteolysis; Gorham-Stout Syndrome; phantom bone disease; Disappearing bone disease;
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A syndrome that is characterized by bone loss (ost.. [+]
A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
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Graves ophthalmopathy
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Graves orbitopathy; Thyroid associated ophthalmopa..
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Graves orbitopathy; Thyroid associated ophthalmopathy; thyroid eye disease;
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An autoimmune disease of eyes, ear, nose and throa.. [+]
An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.
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Graves' disease
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Basedow's disease; Grave's disease; exophthalmic g..
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Basedow's disease; Grave's disease; exophthalmic goiter; Graves disease;
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An autoimmune disease of endocrine system that inv.. [+]
An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
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1 articles
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Greenberg dysplasia
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autosomal recessive lethal chondrodystrophy with c..
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autosomal recessive lethal chondrodystrophy with congenital hydrops; GRBGD; Greenberg skeletal dysplasia; HEM dysplasia; hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type; hydrops, ectopic calcification, moth-eaten skeletal dysplasia;
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An inherited metabolic disorder characterized by a.. [+]
An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.
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Greig cephalopolysyndactyly syndrome
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polysyndactyly with peculiars skull shape;
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An acrocephalosyndactylia that has_material_basis_.. [+]
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
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2 articles
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Griscelli syndrome
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Chédiak-Higashi-like syndrome; Griscelli-Pruniér..
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Chédiak-Higashi-like syndrome; Griscelli-Pruniéras syndrome; Chediak-Higashi-like syndrome; Griscelli-Prunieras syndrome; partial albinism-immunodeficiency syndrome;
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An integumentary system disease characterized by s.. [+]
An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
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2 articles
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Griscelli syndrome type 1
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Griscelli syndrome, cutaneous and neurological typ..
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Griscelli syndrome, cutaneous and neurological type; Griscelli-Pruniéras syndrome type 1; GS1; hypopigmentation-neurologic impairment syndrome; Griscelli syndrome with neurological impairment; Griscelli-Prunieras syndrome type 1;
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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.
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Griscelli syndrome type 2
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Griscelli syndrome with hemophagocytic syndrome; G..
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Griscelli syndrome with hemophagocytic syndrome; Griscelli-Pruniéras syndrome type 2; PAID syndrome; partial albinism and immunodeficiency syndrome; GS2; Griscelli-Prunieras syndrome type 2; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome;
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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.
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Griscelli syndrome type 3
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Griscelli-Pruniéras syndrome type 3; GS3; Griscel..
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Griscelli-Pruniéras syndrome type 3; GS3; Griscelli-Prunieras syndrome type 3;
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A Griscelli syndrome characterized by isolated sil.. [+]
A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes.
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Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
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A frontotemporal dementia characterized by variabl.. [+]
A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
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Guillain-Barre syndrome
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acute infective polyneuritis; Infectious neuroniti..
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acute infective polyneuritis; Infectious neuronitis; Postinfectious polyneuritis; acute inflammatory demyelinating polyradiculopathy; Post-infectious polyneuritis; acute postinfectious polyneuropathy;
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An autoimmune disease of peripheral nervous system.. [+]
An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
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Guttmacher syndrome
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autosomal dominant preaxial deficiency, postaxial ..
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autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency-postaxial polydactyly-hypospadias syndrome;
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A syndrome characterized by preaxial deficiencies .. [+]
A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.
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HCL-V
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Hairy cell leukemia variant (disorder); Hairy cell..
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Hairy cell leukemia variant (disorder); Hairy cell leukaemia variant; Hairy cell leukemia variant;
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n_a
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HELLP syndrome
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A severe pre-eclampsia characterized by hemolysis,.. [+]
A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
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HMG-CoA synthase 2 deficiency
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3-hydroxy-3-methylglutaryl-CoA synthase-2 deficien..
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3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency;
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An amino acid metabolic disorder that is character.. [+]
An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.
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HRPT-related hyperuricemia
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HPRT deficiency, grade I; HPRT partial deficiency;..
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HPRT deficiency, grade I; HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; HPRT1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; Kelley-Seegmiller syndrome; hypoxanthine guanine phosphoribosyltransferase partial deficiency;
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A hyperuricemia characterized by excessive purine .. [+]
A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.
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Hailey-Hailey disease
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Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIG..
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Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIGUS;
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A pemphigus that is characterized by recurring bli.. [+]
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
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Hajdu-Cheney syndrome
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arthrodentoosteodysplasia; HJCYS; serpentine fibul..
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arthrodentoosteodysplasia; HJCYS; serpentine fibula-polycystic kidney syndrome; SFPKS; Cheney syndrome; acroosteolysis with osteoporosis and changes in skull and mandible;
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A bone disease characterized by short stature, coa.. [+]
A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
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Hallermann-Streiff syndrome
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Hallerman - Streiff syndrome; Hallermann's syndrom..
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Hallerman - Streiff syndrome; Hallermann's syndrome; Francois dyscephalic syndrome;
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A syndrome that affects growth, cranial developmen.. [+]
A syndrome that affects growth, cranial development, hair growth and dental development.
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Halperin-Birk syndrome
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HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH S..
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HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES;
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A syndrome characterized by structural brain defec.. [+]
A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22.
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Hantavirus hemorrhagic fever with renal syndrome
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Hemorrhagic fever, Russian; Hemorrhagic nephrosone..
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Hemorrhagic fever, Russian; Hemorrhagic nephrosonephritis; HFRS; Puumala virus nephropathy (disorder); Puumala virus nephropathy;
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A viral infectious disease that is a hemorrhagic f.. [+]
A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
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Harel-Yoon syndrome
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Ocular anomalies-axonal neuropathy-developmental d..
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Ocular anomalies-axonal neuropathy-developmental delay syndrome;
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A syndrome that is characterized by delayed psycho.. [+]
A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.
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Hartnup disease
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deficiency of tryptophan oxygenase; neutral amino ..
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deficiency of tryptophan oxygenase; neutral amino acid transport defect; Neutral 1 amino acid transport defect (disorder); Neutral 1 amino acid transport defect;
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An amino acid metabolic disorder that is caused by.. [+]
An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
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Haverhill fever
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Streptobacillary fever; Streptobacillary rat-bite ..
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Streptobacillary fever; Streptobacillary rat-bite fever; Streptobacillosis;
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A primary bacterial infectious disease that result.. [+]
A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain.
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Heimler syndrome 1
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Deafness-enamel hypoplasia-nail defects syndrome; ..
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Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C;
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A peroxisomal biogenesis disorder that is characte.. [+]
A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.
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Heimler syndrome 2
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peroxisomal biogenesis disorder 4C;
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A peroxisomal biogenesis disorder that is characte.. [+]
A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
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Heinz body anemia
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A congenital nonspherocytic hemolytic anemia chara.. [+]
A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.
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Helsmoortel-Van Der Aa Syndrome
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autosomal dominant mental retardation 28; HVDAS; M..
[+]
autosomal dominant mental retardation 28; HVDAS; MRD28;
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An autosomal dominant intellectual developmental d.. [+]
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
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