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 circulating protein concentration (HP:0010876)

Parent Node:
Abnormal levels of alpha-fetoprotein (HP:0045056)

..Starting node
..Elevated alpha-fetoprotein (HP:0006254)

Term ID:

6254

Name:

Elevated alpha-fetoprotein

Synonym:

Alpha fetoprotein abnormal; Increased levels of alpha fetoprotein; Increased serum alpha-fetoprotein; Serum alpha-fetoprotein increased

Definition:

An increased concentration of alpha-fetoprotein.

Comments:

Reference:

HP:0006254

Genes and Diseases:

Child Nodes:

........

Elevated amniotic fluid alpha-fetoprotein (HP:0004639)

........

Elevated maternal serum alpha-fetoprotein (HP:0005984)

Sister Nodes:

Decreased levels of alpha-fetoprotein (HP:0045057)

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:0006254	HP:0006254	Elevated alpha-fetoprotein	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent	88
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent	375
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation	HP:0040284 - Very rare	32
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type		241
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	11
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent	7
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	162
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0006254	HP:0006254	Elevated alpha-fetoprotein	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0006254	HP:0005984	Elevated maternal serum alpha-fetoprotein	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0006254	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0006254	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	1	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type	HP:0040281 - Very frequent	241
HP:0006254	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0006254	HP:0005984	Elevated maternal serum alpha-fetoprotein	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0006254	HP:0005984	Elevated maternal serum alpha-fetoprotein	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0006254	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49

Genes (29) :ATM BCL10 CTNNB1 DGUOK FAH FGFR3 FLI1 FOCAD ITGB4 KIF12 KIT MAD2L2 MET MKS1 NGLY1 NPHS1 NR1H4 OCRL PEX6 PIGN PIK3R5 PKD2 PLEC PRPS1 RNF168 SETX SLC25A13 STK11 ZBTB20

Diseases (25) :OMIM:208900 OMIM:273300 ORPHA:33402 OMIM:251880 OMIM:276700 ORPHA:370348 OMIM:619991 OMIM:226730 OMIM:619662 OMIM:617243 OMIM:249000 OMIM:615273 ORPHA:839 OMIM:617049 OMIM:309000 ORPHA:95433 ORPHA:280633 OMIM:615217 ORPHA:64753 OMIM:613095 ORPHA:423479 ORPHA:420741 OMIM:606002 ORPHA:247598 OMIM:259050

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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