(Q55999831)

English

acromesomelic dysplasia, Demirhan type

human disease

Chondrodysplasia, Acromesomelic, With or Without Genital Anomalies
AMDD
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
Chondrodysplasia acromesomelic with genital anomalies

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Statements

subclass of

acromesomelic dysplasia

0 references

genetic association

BMPR1B

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000138696/MONDO_0012274

based on heuristic

inferred from an Open Targets association score over 0.7

Identifiers

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

0 references

(Q55999831)

acromesomelic dysplasia, Demirhan type

Statements

Identifiers

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