Preferred Name

NEPHROCYSTIN 3

Synonyms

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

ID

http://purl.bioontology.org/ontology/OMIM/608002

altLabel

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

MECKEL SYNDROME, TYPE 7

NEPHRONOPHTHISIS 3

NPHP3

cui

C1858392

C2673885

C3715199

C1417783

Gene Locus

3q22

Gene Symbol

MKS7

NPHP3

NPH3

RHPD1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/608002.0005

http://purl.bioontology.org/ontology/OMIM/608002.0007

http://purl.bioontology.org/ontology/OMIM/608002.0006

http://purl.bioontology.org/ontology/OMIM/608002.0001

http://purl.bioontology.org/ontology/OMIM/608002.0003

http://purl.bioontology.org/ontology/OMIM/608002.0002

http://purl.bioontology.org/ontology/OMIM/608002.0008

http://purl.bioontology.org/ontology/OMIM/608002.0009

http://purl.bioontology.org/ontology/OMIM/608002.0004

MIMTYPEMEANING

Gene with known sequence

notation

608002

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NEPHROCYSTIN 3

tui

T028

T047

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_123878 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537756 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/PR_000011363 Protein Ontology / 蛋白质本体 LOOM
http://purl.bioontology.org/ontology/MESH/C565780 Medical Subject Headings / 医学主题词表 CUI