PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Polycystic Kidney, Autosomal Recessive

Synonyms
Definitions

A autosomal dominant polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene.

ID

http://www.phoc.org.cn/pmo/class/PMO_00040065

Database_Cross_Reference

NCI_NICHD:C84579

CHV:0000015643

MEDCIN:36917

MTH:NOCODE

SNMI:D4-71320

CCPSS:0028009

NCI:C84579

DO:DOID:5928

ICD9CM:753.14

DO:DOID:0080212

SNM:M-26740

DO:DOID:0110861

OMIM:263200

SNOMEDCT_US:28770003

OMIM:606702

ICD10:Q61.1

RCD:PD110

MSH:D017044

ICD10AM:Q61.1

NDFRT:N0000003520

MDR:10036047

ICD10CM:Q61.1

Definition

A autosomal dominant polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene.

label

Polycystic Kidney, Autosomal Recessive

MCID

MC00043322

PMOID

PMO:00040065

prefixIRI

pmo:PMO_00040065

prefLabel

Polycystic Kidney, Autosomal Recessive

Synonym

ARPKD - Autosomal recessive polycystic kidney disease

POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1

Polycystic Kidney Disease, Infantile, Type I

arpkds

Polycystic kidney disease, infantile type

polycystic kidney disease 4

POLYCYSTIC KIDNEY DISEASE INFANT

Polycystic kidney, autosomal recessive

Autosomal Recessive Polycystic kidney disease

Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)

Autosomal recessive infantile polycystic kidney disease

Polycystic Kidney Disease, Infantile, Type 1

POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I

Autosomal recessive polycystic kidney disease

Infantile polycystic kidney

ARPKD-Aut reces polycys kidney

IPKD - Infant polycys kidn dis

PKHD1

Polycyst kid-autosom rec

IPKD - Infantile polycystic kidney disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

disease infants kidney polycystic

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DIS

arpkd

autosomal recessive polycystic kidney disease

Polycystic Kidney, Autosomal Recessive [Disease/Finding]

autosomal recessive polycystic kidney disease (diagnosis)

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE

Polycystic Kidney and Hepatic Disease 1

Polycystic kidney, infantile type

Aut recess polycystic kidney

Polycystic Kidney Disease, Autosomal Recessive

Polycystic kidney disease, infantile type (disorder)

Infantile polycystic kidney disease

Polycystic Kidney Disease, Infantile Type

autosomal recessive polycystic kidney

Kidney, Polycystic, Autosomal Recessive

ARPKD

PKD3, FORMERLY

Pkhd1

Autosomal Recessive Polycystic Kidney

Tree Number

T9.8.3.1.27.1

T9.24.2.3.4.2.1

T9.19.2.2.3.4.2.1

T9.8.4.31.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00040063

http://www.phoc.org.cn/pmo/class/PMO_00007976

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