Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1

Preferred Label : Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1;

Symbol : EEC1;

CISMeF acronym : EEC; EEC1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Eec syndrome 1; EEC;

Description : This form of ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, designated EEC1, has been linked to chromosome 7q11.2-q21.3. Another form of the disorder, designated EEC3 (604292), is caused by mutation in the TP63 gene (603273).;

Inheritance : Autosomal dominant;

Prefixed ID : %129900;

Details

Origin ID

129900;

UMLS CUI

C1851841;

Automatic exact mappings (from CISMeF team)
- Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 [MeSH Supplementary Concept]
- Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 [MeSH concept]
- Endometrial Endometrioid Adenocarcinoma [NCIt concept]
- Exstrophy-epispadias complex [ORDO Disease]
- common market [MeSH concept]
- ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 [HGNC gene]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 [DO Concept]
- european union [MeSH Descriptor]
Broader ORDO disease(s)
- EEC syndrome [ORDO Disease]
DO Cross reference
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 [DO Concept]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Absence of Stensen duct [HPO term]
- Anal atresia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bladder diverticulum [HPO term]
- Blepharitis [HPO term]
- Blepharophimosis [HPO term]
- Blue irides [HPO term]
- Broad nasal tip [HPO term]
- Carious teeth [HPO term]
- Central diabetes insipidus [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Cryptorchidism [HPO term]
- Dacryocystitis [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Depressed nasal tip [HPO term]
- Duplicated collecting system [HPO term]
- Ectodermal dysplasia [HPO term]
- Fair hair [HPO term]
- Generalized hypopigmentation [HPO term]
- Hand polydactyly [HPO term]
- Heterogeneous [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hyperkeratosis [HPO term]
- Hypertelorism [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic nipples [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Nail dysplasia [HPO term]
- Nail pits [HPO term]
- Oligodontia [HPO term]
- Photophobia [HPO term]
- Rectovaginal fistula [HPO term]
- Recurrent respiratory infections [HPO term]
- Renal agenesis [HPO term]
- Renal dysplasia [HPO term]
- Selective tooth agenesis [HPO term]
- Semilobar holoprosencephaly [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse axillary hair [HPO term]
- Sparse eyebrows and eyelashes [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse pubic hair [HPO term]
- Sparse scalp hair [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Telecanthus [HPO term]
- Thin skin [HPO term]
- Toe syndactyly [HPO term]
- Transverse vaginal septum [HPO term]
- Ureterocele [HPO term]
- Vesicoureteral reflux [HPO term]
- Xerostomia [HPO term]
- fine, sparse, light-colored hair [HPO term]
ORDO concept(s)
- EEC syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 [MeSH Supplementary Concept]
- Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 [MeSH concept]

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