MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
Blepharoptosis (D001763)
..Starting node
Ptosis, Hereditary Congenital 1 (C566737)

       Child Nodes:

 Sister Nodes: 
..expandBlepharophimosis syndrome Ohdo type (C536232)
..expandBlepharoptosis myopia ectopia lentis (C536236)
..expandCarnevale syndrome (C535586)
..expandCharcot-Marie-Tooth disease with ptosis and parkinsonism (C538079)
..expandDeafness conductive ptosis skeletal anomalies (C535993)
..expandDisproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandGrowth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..expandIris Coloboma with Ptosis, Hypertelorism, and Mental Retardation (C565462)
..expandMandibulofacial Dysostosis with Ptosis, Autosomal Dominant (C564267)
..expandMarcus Gunn phenomenon (C535908)
..expandMcPherson Robertson Cammarano syndrome (C538161)
..expandMehta Lewis Patton syndrome (C536147)
..expandMyasthenic Syndrome, Congenital, Associated with Facial Dysmorphism (C563830)
..expandOliver-McFarlane syndrome (C536554)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandPtosis, Hereditary Congenital 1 (C566737)
..expandPtosis, Hereditary Congenital 2 (C564553)
..expandPtosis, Strabismus, And Ectopic Pupils (C566736)
..expandTreft Sanborn Carey syndrome (C536544)
..expandTucker syndrome (C536923)
..expandVan Bogaert-Hozay syndrome (C536526)
..expandVertebral fusion posterior lumbosacral blepharoptosis (C536344)
..expandWidow's Peak Syndrome (C564040)

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10409
Name:Ptosis, Hereditary Congenital 1
Alternative IDs:OMIM:178300
Slim Mappings:Eye disease
Reference: MedGen: C566737
MeSH: C566737
OMIM: 178300;
Genes: PTOS1; ZFHX4;
1 HP:0000006Autosomal dominant inheritance
2 HP:0007970Congenital ptosis
Disease Causing ClinVar Variants
MSeqDR Portal