Disease Browser
Parent Node: Abnormalities, Multiple (D000015) Parent Node: Cleft Palate (D002972) Parent Node: Hair Diseases (D006201) Parent Node: Hypothyroidism (D007037) ..Starting node Bamforth syndrome (C537901) Child Nodes:
Sister Nodes: ..Bamforth syndrome (C537901) ..Congenital Hypothyroidism (D003409) ..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604) ..Johanson Blizzard syndrome (C535880) ..Jung Wolff Back Stahl syndrome (C537694) ..Myxedema (D009230) ..Pituitary Hormone Deficiency, Combined, 1 (C567803) ..Pituitary Hormone Deficiency, Combined, 4 (C567492) ..Thyroid Dyshormonogenesis 3 (C562769) ..Thyroid Dyshormonogenesis 5 (C562771) ..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120) ..Thyrotropin-Releasing Hormone Resistance, Generalized (C566049) ..Zadik Barak Levin syndrome (C536721) UMLS . MedGen , OMIM , CTD
Term ID: 1141 Name: Bamforth syndrome Definition: Alternative IDs: OMIM:241850 ParentIDs: MESH:D000015|MESH:D002972|MESH:D006201|MESH:D007037 TreeNumbers: C05.500.460.185/C537901 |C05.660.207.540.460.185/C537901 |C07.320.440.185/C537901 |C07.465.525.185/C537901 |C07.650.500.460.185/C537901 |C07.650.525.185/C537901 |C16.131.077/C537901 |C16.131.621.207.540.460.185/C537901 |C16.131.850.500.460.185/C537901 |C16.131.85 Synonyms: Bamforth-Lazarus syndrome |BAMFORTH-LAZARUS SYNDROME HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE, INCLUDED |Hypothyroidism, athyroidal, with spiky hair and cleft palate |Hypothyroidism cleft palate |Hypothyroidism, Thyroidal, With Spiky Hair Slim Mappings: Congenital abnormality|Endocrine system disease|Mouth disease|Musculoskeletal disease|Skin disease Reference:
MedGen: C537901
MeSH: C537901 OMIM: 241850 ; Genes: FOXE1 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_004473.3(FOXE1):c.170G>A (p.Ser57Asn) 2304 FOXE1 Pathogenic 28937575 RCV000007403 ; N MedGen:C1855794,OMIM:241850,ORPHA:1226 9 100616366 100616366 NM_004473.3:c.170G>A NP_004464.2:p.Ser57Asn NC_000009.11:g.100616366G>A OMIM Allelic Variant:602617.0002 C1855794 241850 Bamforth syndrome NM_004473.3(FOXE1):c.194C>T (p.Ala65Val) 2304 FOXE1 Pathogenic 104894110 RCV000007402 ; N MedGen:C1855794,OMIM:241850,ORPHA:1226 9 100616390 100616390 NM_004473.3:c.194C>T NP_004464.2:p.Ala65Val NC_000009.11:g.100616390C>T OMIM Allelic Variant:602617.0001 C1855794 241850 Bamforth syndrome
Bamforth syndrome 
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