Gonadal dysgenesis, xy type, with associated anomalies

Preferred Label : Gonadal dysgenesis, xy type, with associated anomalies;

Obsolete resource : true;

Moved to : 618419;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Brosnan et al. (1980) described 2 sisters, aged 1.5 and 8.5 years, with peculiar facies; cardiac, renal, musculoskeletal, and ectodermal anomalies; short stature; streak gonads and mild developmental delay. Both patients were of 46,XY karyotype. Abnormalities included cleft lip and palate, preauricular pits, acromelia with broad hands and feet, and a hypermuscular appearance. Ectodermal defects included 'punched out scalp defects' and unusual position of hair whorls. The nose had a 'squashed down' appearance because of a short columella and small nares. *FIELD* RF 1. Brosnan, P. G.; Lewandowski, R. C.; Toguri, A. G.; Payer, A. F.; Meyer, W. J.: A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures. J. Pediat. 97: 586-590, 1980. *FIELD* CS Growth: Short stature Skin: Ectodermal defects; Punched out scalp defects; Unusual position of hair whorls GU: Gonadal dysgenesis; Primary amenorrhea;

Inheritance : Autosomal recessive;

Prefixed ID : 233430;

Details

Origin ID

233430;

UMLS CUI

C1856272;

Currated CISMeF NLP mapping
- XY type gonadal dysgenesis with associated anomalies syndrome (disorder) [SNOMED CT concept]
- XY type gonadal dysgenesis-associated anomalies syndrome [ORDO Disease]
- gonadal dysgenesis, XY type, with associated anomalies [MeSH concept]
- gonadal dysgenesis, XY type, with associated anomalies [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Acromelia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad foot [HPO term]
- Broad palm [HPO term]
- Cleft upper lip [HPO term]
- Gonadal dysgenesis [HPO term]
- Intellectual disability, mild [HPO term]
- Oral cleft [HPO term]
- Preauricular pit [HPO term]
- Primary amenorrhea [HPO term]
- Short columella [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- XY type gonadal dysgenesis-associated anomalies syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- XY type gonadal dysgenesis with associated anomalies syndrome (disorder) [SNOMED CT concept]
- XY type gonadal dysgenesis-associated anomalies syndrome [ORDO Disease]
- gonadal dysgenesis, XY type, with associated anomalies [MeSH Supplementary Concept]
- gonadal dysgenesis, XY type, with associated anomalies [MeSH concept]

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