(Q55784796)

English

postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

human disease

Pallister-Hall Syndrome 2, Formerly
Pallister-Hall Syndrome 2
CJS
CULLER-JONES SYNDROME
CULLER-JONES SYNDROME; CJS
Culler-Jones syndrome

In more languages

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

disease associated with non-acquired combined pituitary hormone deficiency

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014369

syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014369

autosomal dominant disease

1 reference

30 November 2020

1 reference

30 November 2020

3 references

13 August 2019

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000074047/MONDO_0014369

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_420584

0 references

http://purl.obolibrary.org/obo/DOID_0080328

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0080328

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

0 references

1 reference

28 August 2019

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q55784796)

postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Statements

Identifiers

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