Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal liver morphology (HP:0410042)

Parent Node:
Hepatic fibrosis (HP:0001395)

..Starting node
..Congenital hepatic fibrosis (HP:0002612)

Term ID:

2612

Name:

Congenital hepatic fibrosis

Synonym:

Congenital liver fibrosis; Excessive buildup of connective tissue and scarring of liver at birth

Definition:

The presence of fibrosis of that part of the liver with congenital onset.

Comments:

Reference:

HP:0002612

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatic bridging fibrosis (HP:0012852)

Periportal fibrosis (HP:0001405)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	28
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	34
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	247
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	34
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	342
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	342
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	57
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent	15
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	106
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	61
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	127
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	85
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	157
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	220
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	109
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	167
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	61
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040283 - Occasional	56
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	45
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	76
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	31
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	4
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	45
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	33
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	82
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	166
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	6
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	2
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	95
HP:0002612	HP:0002612	Congenital hepatic fibrosis	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136

Genes (47) :ARHGAP31 B9D1 B9D2 CC2D2A CEP164 CEP290 CSPP1 DCDC2 DLL4 DOCK6 DYNC2H1 DYNC2I1 DYNC2I2 DZIP1L EOGT HAMP HJV IFT140 IFT80 INPP5E INVS IQCB1 MKS1 NOTCH1 NPHP1 NPHP3 NPHP4 PKHD1 PNPLA6 RBPJ RPGRIP1 RPGRIP1L SDCCAG8 SLC40A1 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRAF3IP1 TTC26 TXNDC15 WDR19 WDR35

Diseases (13) :ORPHA:974 ORPHA:564 OMIM:619111 ORPHA:1454 ORPHA:3156 ORPHA:84081 ORPHA:93271 ORPHA:731 ORPHA:79230 OMIM:266920 ORPHA:2377 ORPHA:139491 OMIM:619534

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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