(Q55784727)

English

Hartsfield-Bixler-Demyer syndrome

human disease

Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holoprosencephaly-ectrodactyly-cleft lip palate syndrome
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
HARTSFIELD SYNDROME; HRTFDS
HRTFDS
Hartsfield syndrome

In more languages

default values for all languages

No label defined

No description defined

Statements

head and neck disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

orofacial clefting syndrome

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000077782/MONDO_0014196

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_2117

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(2 entries)

enwiki Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
trwiki Hartsfield sendromu

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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