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Disease	Synonyms	Description	Articles
autosomal recessive congenital ichthyosis 4B	harlequin ichthyosis; harlequin type ichthyosis fe.. [+] harlequin ichthyosis; harlequin type ichthyosis fetalis; harlequin type ichthyosis congenita; 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; JEB-H; junctional epidermolysis bullosa generalisata gravis; junctional epidermolysis bullosa, Herlitz-Pearson type; epidermolysis bullosa letalis; JEB-Herlitz 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	hyper-IgM syndrome type 2; HIGM2; activation-induc.. [+] HIGM2; hyper-IgM syndrome type 2; 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 UNG deficiency; hyper-Ig.. [+] hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome due to uracil N-glycosylase; hyper-IgM syndrome 5; HIGM5 [-]	A hyper IgM syndrome that is characterized by norm..[+] A hyper IgM syndrome that is 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 hyper IgM syndrome that is characterized by norm..[+] A hyper IgM syndrome that is 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; tight skin co.. [+] hyperkeratosis-contracture syndrome; tight skin contracture syndrome; lethal restrictive dermopathy; 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. [-]	1 articles
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, cutaneous and neurological type; Griscelli-PruniÃ©ras syndrome type 1; GS1; Griscelli syndrome with neurological impairment; 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; PAID syndrome; partial albinism and immunodeficiency syndrome; GS2; Griscelli-Prunieras syndrome type 2 [-]	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. [-]	1 articles
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 absorption 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, I.. [+] Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant; Hereditary Cerebral Hemorrhage with Amyloidosis; HCHWA; Amyloidosis VI; Amyloidosis, Cerebroarterial, Icelandic Type; Cerebral Hemorrhage, Hereditary, with Amyloidosis; Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene 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 the ITM2B gene on chromosome 13q14.2. [-]
familial hyperinsulinemic hypoglycemia 7	HHF7; hyperinsulinism due to SLC16A1 deficiency; h.. [+] hyperinsulinism due to SLC16A1 deficiency; HHF7; hyperinsulinism due to monocarboxylate transporter 1 deficiency; EIHI; exercise-induced hyperinsulinism; exercise-induced hyperinsulinemic hypoglycemia [-]	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. [-]
familial hyperinsulinemic hypoglycemia 4	hyperinsulinemic hypoglycemia due to short chain 3.. [+] hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinism due to SCHAD deficiency; hyperinsulinism due to glutamodehydrogenase deficiency; HHF4 [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. [-]
familial hyperinsulinemic hypoglycemia 3	hyperinsulinism due to glucokinase deficiency; hyp.. [+] hyperinsulinism due to glucokinase deficiency; hyperinsulinemic hypoglycemia due to glucokinase deficiency; HHF3 [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. [-]
familial hyperinsulinemic hypoglycemia 6	hyperinsulinism-hyperammonemia syndrome; HI/HA syn.. [+] hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome; HHF6 [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. [-]
familial hyperinsulinemic hypoglycemia 2	hyperinsulinemic hypoglycemia due to focal adenoma.. [+] hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; HHF2; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. [-]
familial hyperinsulinemic hypoglycemia 1	HHF1	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. [-]
familial hyperinsulinemic hypoglycemia 5	hyperinsulinism due to INSR deficiency; hyperinsul.. [+] hyperinsulinism due to INSR deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinemic hypoglycemia due to INSR deficiency; HHF5 [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. [-]
primary coenzyme Q10 deficiency 2	hearing loss-encephaloneuropathy-obesity-valvulopa.. [+] hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; COQ10D2; deafness-encephaloneuropathy-obesity-valvulopathy syndrome; coenzyme Q10 deficiency, primary, 2 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 2	Hauptmann-Thannhauser muscular dystrophy; autosoma.. [+] Hauptmann-Thannhauser muscular dystrophy; autosomal dominant limb-girdle muscular dystrophy type 1B; EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; scapuloilioperoneal atrophy with cardiopathy [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. [-]
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. [-]
Borrelia miyamotoi disease	hard tick-borne relapsing fever; BMD	A primary bacterial infectious disease that has_ma..[+] A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. [-]
Charcot-Marie-Tooth disease type 5	hereditary motor and sensory neuropathy with pyram.. [+] hereditary motor and sensory neuropathy with pyramidal features [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. [-]
Charcot-Marie-Tooth disease type 6	hereditary motor and sensory neuropathy type 6	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. [-]
nonsyndromic congenital nail disorder 4	HYPONYCHIA CONGENITA; anonychia congenita	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. [-]
Marinesco-Sjogren syndrome	hereditary oligophrenic cerebello-lental degenerat.. [+] hereditary oligophrenic cerebello-lental degeneration; Garland-Moorhouse syndrome; Marinesco-Garland syndrome; Oligophrenic cerebellolenticular degeneration [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
diaphyseal medullary stenosis with malignant fibrous histiocytoma	Hardcastle syndrome; bone dysplasia-medullary fibr.. [+] Hardcastle syndrome; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. [-]
GNE myopathy	Hereditary Inclusion Body Myopathy; Distal Myopath.. [+] Hereditary Inclusion Body Myopathy; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; inclusion body myopathy 2; Nonaka myopathy [-]	A myopathy that is characterized by progressive sk..[+] A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. [-]
immunoglobulin heavy chain amyloidosis	Heavy chain amyloidosis; AH amyloidosis; Amyloidos.. [+] Heavy chain amyloidosis; AH amyloidosis; Amyloidosis derived from immunoglobulin heavy chain; Ig heavy-chain–associated amyloidosis [-]	An amyloidosis that is characterized by the aggreg..[+] An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. [-]
Catel Manzke syndrome	Hyperphalangy-clinodactyly of index finger with Pi.. [+] Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Micrognathia digital syndrome [-]	A bone disease that is characterized by the Pierre..[+] A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. [-]
Paget's disease of bone 5	Hyperostosis corticalis deformans juvenilis; Hered.. [+] Hyperostosis corticalis deformans juvenilis; Hereditary hyperphosphatasia; Familial osteoectasia; Juvenile Paget disease; Paget disease of bone-5 [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
Tietz syndrome	hypopigmentation/deafness of Tietz; Tietz albinism.. [+] hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome; albinism-deafness of Tietz [-]	A syndrome that is characterized by congenital pro..[+] A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. [-]
autosomal dominant familial periodic fever	hibernian fever; familial hibernian fever; tumor n.. [+] hibernian fever; familial hibernian fever; tumor necrosis factor receptor 1 associated periodic syndrome; familial Hibernian fever; TNF receptor 1-associated periodic syndrome; FHF; FPF; TNF receptor associated periodic syndrome; TRAPS; tumor necrosis factor receptor associated periodic syndrome [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
BH4-deficient hyperphenylalaninemia A	hyperphenylalaninemia due to 6-pyruvoyltetrahydrop.. [+] hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; HPABH4A; 6-pyruvoyl-tetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. [-]
autosomal dominant hypocalcemia 1	HYPOC1	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the CASR gene on chromosome 3q21. [-]
autosomal dominant hypocalcemia 2	HYPOC2	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
autosomal dominant hypocalcemia	HYPOC	A metal metabolism disorder characterized by autos..[+] A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. [-]	1 articles
Sorsby's fundus dystrophy	hemorrhagic macular dystrophy; pseudoinflammatory .. [+] hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD [-]	A hereditary retinal dystrophy characterized by au..[+] A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the TIMP3 gene on chromosome 22q12. [-]
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Hay-Wells syndrome; AEC syndrome; ankyloblepharon-.. [+] Hay-Wells syndrome; AEC syndrome; ankyloblepharon-ectodermal defects-cleft lip and palate syndrome [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. [-]
aromatase excess syndrome	hereditary prepubertal gynecomastia; AEXS; familia.. [+] hereditary prepubertal gynecomastia; AEXS; familial hyperestrogenism; increased aromatase activity [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]

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