MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandcraniosynostosis syndrome, autosomal recessive (MONDO:0011679)
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expandectodermal dysplasia syndrome (MONDO:0019287)
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expandinherited renal tubular disease (MONDO:0015962)
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expandrare renal tubular disease (MONDO:0019744)
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expandshort rib-polydactyly syndrome (MONDO:0015461)
Parent Node:
expandsyndromic craniosynostosis (MONDO:0015338)
..Starting node
..expandcranioectodermal dysplasia ()

       Child Nodes:
........expandcranioectodermal dysplasia 1 ()
........expandcranioectodermal dysplasia 2 ()
........expandcranioectodermal dysplasia 3 ()
........expandcranioectodermal dysplasia 4 ()
........expandshort-rib thoracic dysplasia 16 with or without polydactyly ()



 Sister Nodes: 
..expandacrocephalopolydactyly ()
..expandacrocephalosyndactyly ()
..expandAntley-Bixler syndrome ()
..expandautosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome ()
..expandBaller-Gerold syndrome ()
..expandBeare-Stevenson cutis gyrata syndrome ()
..expandc syndrome ()
..expandcardiocranial syndrome, Pfeiffer type ()
..expandcloverleaf skull-asphyxiating thoracic dysplasia syndrome ()
..expandcloverleaf skull-multiple congenital anomalies syndrome ()
..expandcranioectodermal dysplasia ()
..expandcraniomicromelic syndrome ()
..expandcraniosynostosis and dental anomalies ()
..expandcraniosynostosis, Boston type ()
..expandcraniosynostosis, Herrmann-Opitz type ()
..expandcraniosynostosis, Philadelphia type ()
..expandcraniosynostosis-anal anomalies-porokeratosis syndrome ()
..expandcraniosynostosis-cataract syndrome ()
..expandcraniosynostosis-fibular aplasia syndrome ()
..expandcraniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ()
..expandcraniosynostosis-intracranial calcifications syndrome ()
..expandcraniotelencephalic dysplasia ()
..expandCrouzon syndrome ()
..expandCrouzon syndrome-acanthosis nigricans syndrome ()
..expandcurry-Jones syndrome ()
..expandfamilial scaphocephaly syndrome ()
..expandholoprosencephaly-craniosynostosis syndrome ()
..expandHunter-McAlpine craniosynostosis ()
..expandlethal occipital encephalocele-skeletal dysplasia syndrome ()
..expandLowry-MacLean syndrome ()
..expandmetopic ridging-ptosis-facial dysmorphism syndrome ()
..expandMuenke syndrome ()
..expandosteosclerosis-developmental delay-craniosynostosis syndrome ()
..expandpseudoaminopterin syndrome ()
..expandscarf syndrome ()
..expandShprintzen-Goldberg syndrome ()
..expandSummitt syndrome ()
..expandtrigonocephaly-broad thumbs syndrome ()
..expandtrigonocephaly-short stature-developmental delay syndrome ()
..expandX-linked intellectual disability-plagiocephaly syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9032
Name:cranioectodermal dysplasia
Definition:Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
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Synonyms:CED; cranioectodermal dysplasia; Levin syndrome; Sensenbrenner syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal