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	autosomal recessive polycystic kidney disease

Disease ID	72
Disease	autosomal recessive polycystic kidney disease
Definition	A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.
Synonym	arpkd arpkd - autosomal recessive polycystic kidney disease arpkds autosomal recessive infantile polycystic kidney disease autosomal recessive polycystic kidney autosomal recessive polycystic kidney dis disease infants kidney polycystic infantile polycystic kidney disease ipkd - infantile polycystic kidney disease kidney, polycystic, autosomal recessive pkd3, formerly pkhd1 polycyst kid-autosom rec polycystic kidney and hepatic disease 1 polycystic kidney and hepatic disease 1 (autosomal recessive) polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile type polycystic kidney disease, infantile type (disorder) polycystic kidney disease, infantile, type 1 polycystic kidney disease, infantile, type i polycystic kidney, autosomal recessive polycystic kidney, autosomal recessive [disease/finding]
Orphanet	ORPHANET:731
OMIM	OMIM:263200 OMIM:606702
DOID	DOID:5928 DOID:898
UMLS	C0085548
MeSH	D017044
SNOMED-CT	SNOMEDCT_US_2016_09_01:28770003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0162510 \| caroli syndrome \| 2 C0023895 \| liver disease \| 2 C0007766 \| intracranial aneurysm \| 1 C1565489 \| renal insufficiency \| 1 C0022658 \| renal disease \| 1 C0162510 \| caroli's syndrome \| 1 C0022679 \| cystic kidney \| 1 C0007766 \| cranial aneurysm \| 1 C0022661 \| chronic kidney disease \| 1 C0206624 \| hepatoblastoma \| 1 C0008311 \| cholangitis \| 1 C0020538 \| hypertension \| 1 C0162510 \| caroli's disease \| 1 C0022661 \| end-stage renal disease \| 1 C0022658 \| kidney disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1956 \| EGFR \| CTD_human 27031 \| NPHP3 \| CTD_human 8100 \| IFT88 \| CTD_human 6714 \| SRC \| CTD_human 5314 \| PKHD1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:105) 32 \| ACACB \| 1.451 \| DISEASES 11217 \| AKAP2 \| 1.887 \| DISEASES 200894 \| ARL13B \| 2.033 \| DISEASES 84100 \| ARL6 \| 3.093 \| DISEASES 444 \| ASPH \| 1.185 \| DISEASES 480 \| ATP1A4 \| 1.441 \| DISEASES 551 \| AVP \| 1.341 \| DISEASES 554 \| AVPR2 \| 2.864 \| DISEASES 57448 \| BIRC6 \| 1.789 \| DISEASES 56244 \| BTNL2 \| 1.128 \| DISEASES 10438 \| C1D \| 2.615 \| DISEASES 1120 \| CHKB \| 1.759 \| DISEASES 54875 \| CNTLN \| 1.352 \| DISEASES 167 \| CRISP1 \| 2.807 \| DISEASES 1453 \| CSNK1D \| 2.39 \| DISEASES 1499 \| CTNNB1 \| 1.257 \| DISEASES 1497 \| CTNS \| 1.082 \| DISEASES 1523 \| CUX1 \| 1.123 \| DISEASES 192668 \| CYS1 \| 4.175 \| DISEASES 51473 \| DCDC2 \| 1.7 \| DISEASES 1733 \| DIO1 \| 1.905 \| DISEASES 199221 \| DZIP1L \| 3.211 \| DISEASES 114327 \| EFHC1 \| 2.593 \| DISEASES 1978 \| EIF4EBP1 \| 1.089 \| DISEASES 60481 \| ELOVL5 \| 1.736 \| DISEASES 2042 \| EPHA3 \| 1.211 \| DISEASES 2051 \| EPHB6 \| 1.727 \| DISEASES 83715 \| ESPN \| 1.919 \| DISEASES 2110 \| ETFDH \| 1.701 \| DISEASES 24147 \| FJX1 \| 2.866 \| DISEASES 166752 \| FREM3 \| 2.531 \| DISEASES 8087 \| FXR1 \| 2.517 \| DISEASES 23193 \| GANAB \| 1.752 \| DISEASES 2938 \| GSTA1 \| 1.076 \| DISEASES 2941 \| GSTA4 \| 1.603 \| DISEASES 8359 \| HIST1H4A \| 1.527 \| DISEASES 8366 \| HIST1H4B \| 1.527 \| DISEASES 8364 \| HIST1H4C \| 1.527 \| DISEASES 8360 \| HIST1H4D \| 1.526 \| DISEASES 8367 \| HIST1H4E \| 1.527 \| DISEASES 8361 \| HIST1H4F \| 1.527 \| DISEASES 8294 \| HIST1H4I \| 1.527 \| DISEASES 8363 \| HIST1H4J \| 1.527 \| DISEASES 8362 \| HIST1H4K \| 1.527 \| DISEASES 8368 \| HIST1H4L \| 1.527 \| DISEASES 8370 \| HIST2H4A \| 1.527 \| DISEASES 554313 \| HIST2H4B \| 1.527 \| DISEASES 121504 \| HIST4H4 \| 1.527 \| DISEASES 60495 \| HPSE2 \| 1.132 \| DISEASES 8100 \| IFT88 \| 4.952 \| DISEASES 3609 \| ILF3 \| 2.643 \| DISEASES 3619 \| INCENP \| 2.046 \| DISEASES 113220 \| KIF12 \| 2.959 \| DISEASES 11127 \| KIF3A \| 1.67 \| DISEASES 9371 \| KIF3B \| 2.325 \| DISEASES 3831 \| KLC1 \| 1.543 \| DISEASES 55227 \| LRRC1 \| 2.876 \| DISEASES 54903 \| MKS1 \| 2.957 \| DISEASES 2475 \| MTOR \| 1.266 \| DISEASES 4609 \| MYC \| 2.001 \| DISEASES 4692 \| NDN \| 1.054 \| DISEASES 25983 \| NGDN \| 1.394 \| DISEASES 51667 \| NUB1 \| 2.2 \| DISEASES 84033 \| OBSCN \| 2.112 \| DISEASES 8481 \| OFD1 \| 3.518 \| DISEASES 10298 \| PAK4 \| 1.274 \| DISEASES 85315 \| PAQR8 \| 2.967 \| DISEASES 9659 \| PDE4DIP \| 2.393 \| DISEASES 9033 \| PKD2L1 \| 1.878 \| DISEASES 5314 \| PKHD1 \| 7.556 \| DISEASES 93035 \| PKHD1L1 \| 3.117 \| DISEASES 5313 \| PKLR \| 2.309 \| DISEASES 5367 \| PMCH \| 1.301 \| DISEASES 5587 \| PRKD1 \| 5.772 \| DISEASES 136541 \| PRSS58 \| 1.371 \| DISEASES 5660 \| PSAP \| 1.312 \| DISEASES 5757 \| PTMA \| 1.299 \| DISEASES 5789 \| PTPRD \| 1.308 \| DISEASES 11122 \| PTPRT \| 2.072 \| DISEASES 10411 \| RAPGEF3 \| 1.065 \| DISEASES 11069 \| RAPGEF4 \| 1.114 \| DISEASES 8437 \| RASAL1 \| 1.837 \| DISEASES 57674 \| RNF213 \| 1.538 \| DISEASES 11231 \| SEC63 \| 4.038 \| DISEASES 9814 \| SFI1 \| 2.986 \| DISEASES 26050 \| SLITRK5 \| 2.681 \| DISEASES 79582 \| SPAG16 \| 2.334 \| DISEASES 6752 \| SSTR2 \| 1.496 \| DISEASES 6753 \| SSTR3 \| 1.284 \| DISEASES 23345 \| SYNE1 \| 2.223 \| DISEASES 6888 \| TALDO1 \| 1.29 \| DISEASES 6932 \| TCF7 \| 1.549 \| DISEASES 7021 \| TFAP2B \| 1.923 \| DISEASES 23670 \| TMEM2 \| 3.647 \| DISEASES 51259 \| TMEM216 \| 2.342 \| DISEASES 57393 \| TMEM27 \| 3.472 \| DISEASES 91147 \| TMEM67 \| 3.938 \| DISEASES 55503 \| TRPV6 \| 1.133 \| DISEASES 254173 \| TTLL10 \| 2.921 \| DISEASES 10477 \| UBE2E3 \| 2.774 \| DISEASES 57728 \| WDR19 \| 3.232 \| DISEASES 9589 \| WTAP \| 2.189 \| DISEASES 25937 \| WWTR1 \| 1.305 \| DISEASES 26036 \| ZNF451 \| 1.827 \| DISEASES 171392 \| ZNF675 \| 3.323 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PKHD1 \| 6p12.3-p12.2

Disease ID	72
Disease	autosomal recessive polycystic kidney disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:27) HP:0005562 \| Multiple renal cysts HP:0002240 \| Enlarged liver HP:0002089 \| Hypoplastic lungs HP:0000105 \| Renal enlargement HP:0001562 \| Oligohydramnios HP:0000083 \| Renal insufficiency HP:0008678 \| Renal hypoplasia/aplasia HP:0000347 \| Micrognathia HP:0001409 \| Portal hypertension HP:0000107 \| Renal cyst HP:0001944 \| Dehydration HP:0001737 \| Pancreatic cysts HP:0005564 \| Loss of corticomedullary differentiation HP:0002612 \| Congenital hepatic fibrosis HP:0000457 \| Depressed nasal ridge HP:0002093 \| Respiratory insufficiency HP:0002009 \| Potter facies HP:0001080 \| Biliary tract abnormality HP:0100720 \| Hypoplasia of the ear cartilage HP:0002040 \| Esophageal varix HP:0001405 \| Periportal fibrosis HP:0001407 \| Hepatic cysts HP:0001744 \| Splenomegaly HP:0005576 \| Renal interstitial fibrosis HP:0000113 \| Polycystic kidney dysplasia HP:0000400 \| Macrotia HP:0000368 \| Low-set, posteriorly rotated ears
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0002612 \| Congenital hepatic fibrosis \| 4 HP:0001395 \| Hepatic fibrosis \| 4 HP:0001407 \| Hepatic cysts \| 2 HP:0006706 \| Cystic liver disease \| 2 HP:0001541 \| Ascites \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0002884 \| Hepatoblastoma \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0030151 \| Cholangitis \| 1 HP:0000107 \| Renal cyst \| 1 HP:0001737 \| Pancreatic cysts \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0000105 \| Renal enlargement \| 1 HP:0000822 \| Hypertension \| 1

Disease ID	72
Disease	autosomal recessive polycystic kidney disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2186532 \| liver disease C0022661 \| end-stage renal failure C0016977 \| biliary disease C0009714 \| congenital hepatic fibrosis C0008370 \| cholestasis C0007766 \| intracranial aneurysms
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0009714 \| congenital hepatic fibrosis \| 2 C0023895 \| liver disease \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:69)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852944	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52083201	G	A
rs137852945	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51748563	G	A
rs137852946	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52024589	C	T
rs137852947	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51847871	G	A
rs137852948	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375087	6	51659468	A	G
rs137852949	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52058349	G	C,A
rs137852950	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375087	6	51659714	A	C
rs142107837	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52028349	C	T
rs145184792	12846734	5314	PKHD1	umls:C0085548	UNIPROT	A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.	0.672904056	2003	PKHD1;LOC105375087	6	51659541	C	G
rs146649803	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51747897	C	A
rs146680689	19914852	5314	PKHD1	umls:C0085548	UNIPROT	PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.	0.672904056	2010	PKHD1	6	51619437	G	A
rs148617572	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375087	6	51659682	G	A
rs150925674	12874454	5314	PKHD1	umls:C0085548	UNIPROT	Mutations at a single locus, polycystic kidney and hepatic disease 1 (PKHD1), are responsible for all typical forms of ARPKD.	0.672904056	2003	PKHD1	6	51772763	T	C
rs180675584	12874454	5314	PKHD1	umls:C0085548	UNIPROT	Mutations at a single locus, polycystic kidney and hepatic disease 1 (PKHD1), are responsible for all typical forms of ARPKD.	0.672904056	2003	PKHD1	6	51934319	C	T
rs181208607	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51847966	G	T
rs200179145	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51903601	A	G,T
rs200391019	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52024940	G	A
rs28937907	12506140	5314	PKHD1	umls:C0085548	UNIPROT	Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).	0.672904056	2003	PKHD1	6	52024819	G	A
rs28937907	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52024819	G	A
rs28939099	12846734	5314	PKHD1	umls:C0085548	UNIPROT	A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.	0.672904056	2003	NA	NA	NA	NA	NA
rs28939383	15108281	5314	PKHD1	umls:C0085548	UNIPROT	PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).	0.672904056	2004	NA	NA	NA	NA	NA
rs368263958	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51909466	G	T
rs398124475	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51744510	A	G,C
rs398124476	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52056889	C	T
rs398124477	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52055730	C	T
rs398124478	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52048558	G	A
rs398124479	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52048491	C	T
rs398124480	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52046144	G	A
rs398124481	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52043128	TC	-
rs398124483	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52079937	C	-
rs398124484	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52026048	GG	C
rs398124485	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52076334	C	G
rs398124486	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52025395	C	GGGGAATA
rs398124487	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52024573	C	T
rs398124491	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375086	6	52070431	T	C
rs398124495	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51791269	A	G
rs398124496	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51791268	C	T
rs398124498	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52083223	C	A
rs398124500	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51753327	G	A
rs398124501	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52065001	G	-
rs398124502	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51747927	T	-
rs398124503	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52062655	G	A
rs727504087	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52025077	T	-
rs727504089	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52043721	G	A
rs727504096	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52079920	G	A
rs745770404	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52050157	C	T
rs746471701	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51632706	G	A
rs746838237	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51959882	-	T
rs746972457	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52026044	G	-
rs749293235	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52055593	A	T
rs754392766	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52058355	G	A
rs771180444	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51959898	TG	-
rs771623148	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375087	6	51659673	-	A
rs773136605	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52043102	C	T
rs7766366	12874454	5314	PKHD1	umls:C0085548	UNIPROT	Mutations at a single locus, polycystic kidney and hepatic disease 1 (PKHD1), are responsible for all typical forms of ARPKD.	0.672904056	2003	PKHD1	6	51847961	T	C
rs781368899	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375087	6	51659907	G	A
rs786204241	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51791374	C	T
rs786204588	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375086	6	52069521	CATT	-
rs786204688	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51748297	G	A
rs786204696	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52054122	A	T
rs786204707	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52043636	C	T
rs786204749	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52058377	G	T
rs794727037	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375086	6	52069470	G	C
rs794727572	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52022855	CT	-
rs794727680	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51885888	C	T
rs794727819	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1;LOC105375087	6	51659462	A	T
rs797044713	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	52028187	-	G
rs797044745	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51867876	-	A
rs797045101	NA	5314	PKHD1	umls:C0085548	CLINVAR	NA	0.672904056	NA	PKHD1	6	51748057	A	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:15)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0005562	Multiple renal cysts	MP:0000522	kidney cortex cysts	abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which
HP:0002612	Congenital hepatic fibrosis	MP:0009501	abnormal hepatic duct morphology	any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct
HP:0005576	Tubulointerstitial fibrosis	MP:0011377	renal glomerulus fibrosis	formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process
HP:0000113	Polycystic kidney dysplasia	MP:0011565	kidney papillary hypoplasia	underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx
HP:0001080	Biliary tract abnormality	MP:0010352	gastrointestinal tract polyps	abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract
HP:0000457	Depressed nasal ridge	MP:0004872	absent nasal septum	absence of the structure that separates the two nasal cavities
HP:0000083	Renal insufficiency	MP:0003335	exocrine pancreatic insufficiency	inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
HP:0001405	Periportal fibrosis	MP:0003985	renal fibrosis	formation of fibrous tissue in the kidney as a result of repair or a reactive process
HP:0001409	Portal hypertension	MP:0000231	hypertension	sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states
HP:0100720	Hypoplasia of the ear cartilage	MP:0012167	abnormal epigenetic regulation of gene expression	any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
HP:0001737	Pancreatic cysts	MP:0011682	renal glomerulus cysts	abnormal membranous sacs in any portion of the renal glomerulus
HP:0002089	Pulmonary hypoplasia	MP:0013193	sebaceous gland hypoplasia	underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells
HP:0001407	Hepatic cysts	MP:0011682	renal glomerulus cysts	abnormal membranous sacs in any portion of the renal glomerulus
HP:0005564	Absence of renal corticomedullary differentiation	MP:0011344	abnormal loop of Henle ascending limb thick segment morphology	any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule
HP:0000107	Renal cyst	MP:0003266	biliary cyst	the appearance of fluid-filled sacs within the bile ducts

Mapped by homologous gene(Total Items:27)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001080	Biliary tract abnormality	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001405	Periportal fibrosis	MP:0012238	abnormal cholangiocyte primary cilium morphology	any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen
HP:0001944	Dehydration	MP:0014206	decreased intestinal epithelial sodium ion transmembrane transport
HP:0000105	Enlarged kidneys	MP:0013723	increased circulating tyrosine level	the amount of the amino acid histidine in the blood is more than expected
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000347	Micrognathia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000107	Renal cyst	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0005562	Multiple renal cysts	MP:0011108	embryonic lethality during organogenesis, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0002093	Respiratory insufficiency	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002040	Esophageal varix	MP:0014074	increased brain glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0001409	Portal hypertension	MP:0014074	increased brain glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0002009	Potter facies	MP:0013006	abnormal enteric neural crest cell migration	any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t
HP:0000457	Depressed nasal ridge	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000083	Renal insufficiency	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000113	Polycystic kidney dysplasia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001562	Oligohydramnios	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0008678	Renal hypoplasia/aplasia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001737	Pancreatic cysts	MP:0013293	embryonic lethality prior to tooth bud stage	death prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0000368	Low-set, posteriorly rotated ears	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000400	Macrotia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002089	Pulmonary hypoplasia	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0005576	Tubulointerstitial fibrosis	MP:0014074	increased brain glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0002612	Congenital hepatic fibrosis	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0100720	Hypoplasia of the ear cartilage	MP:0013767	decreased palatal rugae number	reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species
HP:0005564	Absence of renal corticomedullary differentiation	MP:0012238	abnormal cholangiocyte primary cilium morphology	any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen
HP:0001407	Hepatic cysts	MP:0013293	embryonic lethality prior to tooth bud stage	death prior to the appearance of tooth buds (Mus: E12-E12.5)

Disease ID	72
Disease	autosomal recessive polycystic kidney disease
Case	(Waiting for update.)