Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Mortality/Aging (HP:0040006)

Parent Node:
Age of death (HP:0011420)

..Starting node
..Stillbirth (HP:0003826)

Term ID:

3826

Name:

Stillbirth

Synonym:

Fetal death; Fetal demise; Foetal death; Late fetal death; Stillbirth; Stillborn

Definition:

Death of the fetus in utero after at least 22 weeks of gestation.

Comments:

Reference:

HP:0003826

Genes and Diseases:

Child Nodes:

Sister Nodes:

Death in adolescence (HP:0011421)

Death in childhood (HP:0003819)

Death in early adulthood (HP:0100613)

Death in infancy (HP:0001522)

Neonatal death (HP:0003811)

Sudden death (HP:0001699)

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:0003826	HP:0003826	Stillbirth	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0003826	HP:0003826	Stillbirth	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0003826	HP:0003826	Stillbirth	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0003826	HP:0003826	Stillbirth	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0003826	HP:0003826	Stillbirth	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0003826	HP:0003826	Stillbirth	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0003826	HP:0003826	Stillbirth	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0003826	HP:0003826	Stillbirth	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	HP:0040283 - Occasional	92
HP:0003826	HP:0003826	Stillbirth	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0003826	HP:0003826	Stillbirth	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0003826	HP:0003826	Stillbirth	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0003826	HP:0003826	Stillbirth	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0003826	HP:0003826	Stillbirth	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0003826	HP:0003826	Stillbirth	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0003826	HP:0003826	Stillbirth	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0003826	HP:0003826	Stillbirth	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.	70
HP:0003826	HP:0003826	Stillbirth	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0003826	HP:0003826	Stillbirth	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0003826	HP:0003826	Stillbirth	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0003826	HP:0003826	Stillbirth	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003826	HP:0003826	Stillbirth	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0003826	HP:0003826	Stillbirth	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0003826	HP:0003826	Stillbirth	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0003826	HP:0003826	Stillbirth	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0003826	HP:0003826	Stillbirth	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0003826	HP:0003826	Stillbirth	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0003826	HP:0003826	Stillbirth	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0003826	HP:0003826	Stillbirth	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0003826	HP:0003826	Stillbirth	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0003826	HP:0003826	Stillbirth	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0003826	HP:0003826	Stillbirth	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0003826	HP:0003826	Stillbirth	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (29) :ALPL CALCRL CENPF CEP55 COL11A1 COL2A1 ESCO2 FLNA FLNB GBA1 GDF5 HYLS1 IL6ST LBR LGI4 MUSK NEK8 NSDHL OSTM1 PHGDH PITX1 POR PTH1R RNU4ATAC SLC26A2 SLC35D1 TRIP11 WT1 ZMPSTE24

Diseases (32) :OMIM:241500 OMIM:618773 OMIM:243605 OMIM:236500 OMIM:228520 OMIM:200610 OMIM:151210 OMIM:268300 OMIM:309350 OMIM:304120 OMIM:108720 ORPHA:85212 OMIM:200700 OMIM:236680 OMIM:619751 OMIM:215140 OMIM:617468 OMIM:208150 OMIM:615415 OMIM:308050 OMIM:259720 OMIM:256520 OMIM:119800 ORPHA:95699 OMIM:215045 OMIM:210710 OMIM:600972 OMIM:256050 OMIM:269250 OMIM:200600 OMIM:608978 OMIM:275210

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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