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

..Starting node
..Prenatal death (HP:0034241)

Term ID:

34241

Name:

Prenatal death

Synonym:

Death before birth; Intrauterine death

Definition:

Death of a fetus in the uterus.

Comments:

Reference:

HP:0034241

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034241	HP:0034241	Prenatal death	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0034241	HP:0034241	Prenatal death	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0034241	HP:0034241	Prenatal death	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0034241	HP:0034241	Prenatal death	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0034241	HP:0034241	Prenatal death	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0034241	HP:0034241	Prenatal death	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0034241	HP:0034241	Prenatal death	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0034241	HP:0034241	Prenatal death	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0034241	HP:0034241	Prenatal death	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0034241	HP:0034241	Prenatal death	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0034241	HP:0034241	Prenatal death	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0034241	HP:0034241	Prenatal death	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0034241	HP:0034241	Prenatal death	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0034241	HP:0034241	Prenatal death	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0034241	HP:0034241	Prenatal death	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0034241	HP:0034241	Prenatal death	0	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia		47
HP:0034241	HP:0034241	Prenatal death	0	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia		62
HP:0034241	HP:0034241	Prenatal death	0	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia		34
HP:0034241	HP:0034241	Prenatal death	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0034241	HP:0034241	Prenatal death	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0034241	HP:0034241	Prenatal death	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0034241	HP:0034241	Prenatal death	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0034241	HP:0034241	Prenatal death	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0034241	HP:0034241	Prenatal death	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease		580
HP:0034241	HP:0034241	Prenatal death	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0034241	HP:0034241	Prenatal death	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0034241	HP:0034241	Prenatal death	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0034241	HP:0034241	Prenatal death	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0034241	HP:0034241	Prenatal death	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0034241	HP:0034241	Prenatal death	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0034241	HP:0034241	Prenatal death	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0034241	HP:0034241	Prenatal death	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0034241	HP:0034241	Prenatal death	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0034241	HP:0034241	Prenatal death	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0034241	HP:0034241	Prenatal death	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0034241	HP:0034241	Prenatal death	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0034241	HP:0034241	Prenatal death	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0034241	HP:0034241	Prenatal death	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0034241	HP:0034241	Prenatal death	0	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0034241	HP:0034241	Prenatal death	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0034241	HP:0034241	Prenatal death	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0034241	HP:0034241	Prenatal death	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0034241	HP:0034241	Prenatal death	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0034241	HP:0034241	Prenatal death	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:0034241	HP:0034241	Prenatal death	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0034241	HP:0034241	Prenatal death	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0034241	HP:0034241	Prenatal death	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0034241	HP:0034241	Prenatal death	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0034241	HP:0034241	Prenatal death	0	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0034241	HP:0034241	Prenatal death	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0034241	HP:0034241	Prenatal death	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0034241	HP:0034241	Prenatal death	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0034241	HP:0034241	Prenatal death	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0034241	HP:0034241	Prenatal death	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0034241	HP:0034241	Prenatal death	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0034241	HP:0034241	Prenatal death	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0034241	HP:0034241	Prenatal death	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0034241	HP:0034241	Prenatal death	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0034241	HP:0034241	Prenatal death	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0034241	HP:0034241	Prenatal death	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0034241	HP:0034241	Prenatal death	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0034241	HP:0034241	Prenatal death	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0034241	HP:0034241	Prenatal death	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0034241	HP:0034241	Prenatal death	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0034241	HP:0034241	Prenatal death	0	XIST CL E G H	7503	12810	OMIM:300087	X INACTIVATION, FAMILIAL SKEWED, 1; SXI1		2
HP:0034241	HP:0034241	Prenatal death	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0034241	HP:0005268	Miscarriage	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional	104
HP:0034241	HP:0003826	Stillbirth	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0034241	HP:0005268	Miscarriage	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0034241	HP:0003826	Stillbirth	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0034241	HP:0003826	Stillbirth	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0034241	HP:0003826	Stillbirth	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0034241	HP:0005268	Miscarriage	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0034241	HP:0003826	Stillbirth	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0034241	HP:0003826	Stillbirth	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0034241	HP:0003826	Stillbirth	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0034241	HP:0005268	Miscarriage	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0034241	HP:0005268	Miscarriage	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0034241	HP:0005268	Miscarriage	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0034241	HP:0003826	Stillbirth	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	HP:0040283 - Occasional	92
HP:0034241	HP:0005268	Miscarriage	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional	5
HP:0034241	HP:0005268	Miscarriage	1	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	47
HP:0034241	HP:0005268	Miscarriage	1	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	62
HP:0034241	HP:0005268	Miscarriage	1	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	34
HP:0034241	HP:0003826	Stillbirth	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0034241	HP:0003826	Stillbirth	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0034241	HP:0003826	Stillbirth	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0034241	HP:0003826	Stillbirth	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0034241	HP:0003826	Stillbirth	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0034241	HP:0005268	Miscarriage	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040284 - Very rare	580
HP:0034241	HP:0005268	Miscarriage	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional	11
HP:0034241	HP:0005268	Miscarriage	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040282 - Frequent	345
HP:0034241	HP:0003826	Stillbirth	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0034241	HP:0003826	Stillbirth	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0034241	HP:0005268	Miscarriage	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0034241	HP:0003826	Stillbirth	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.	70
HP:0034241	HP:0003826	Stillbirth	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0034241	HP:0005268	Miscarriage	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0034241	HP:0005268	Miscarriage	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0034241	HP:0005268	Miscarriage	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0034241	HP:0005268	Miscarriage	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0034241	HP:0003826	Stillbirth	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0034241	HP:0005268	Miscarriage	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0034241	HP:0003826	Stillbirth	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0034241	HP:0005268	Miscarriage	1	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0034241	HP:0005268	Miscarriage	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0034241	HP:0003826	Stillbirth	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0034241	HP:0003826	Stillbirth	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0034241	HP:0003826	Stillbirth	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0034241	HP:0003826	Stillbirth	1	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:0034241	HP:0005268	Miscarriage	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0034241	HP:0003826	Stillbirth	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0034241	HP:0003826	Stillbirth	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0034241	HP:0005268	Miscarriage	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0034241	HP:0005268	Miscarriage	1	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0034241	HP:0005268	Miscarriage	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	13
HP:0034241	HP:0005268	Miscarriage	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	8
HP:0034241	HP:0005268	Miscarriage	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	16
HP:0034241	HP:0003826	Stillbirth	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0034241	HP:0005268	Miscarriage	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0034241	HP:0005268	Miscarriage	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0034241	HP:0005268	Miscarriage	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0034241	HP:0005268	Miscarriage	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040282 - Frequent	39
HP:0034241	HP:0003826	Stillbirth	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0034241	HP:0003826	Stillbirth	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0034241	HP:0003826	Stillbirth	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0034241	HP:0005268	Miscarriage	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0034241	HP:0003826	Stillbirth	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0034241	HP:0005268	Miscarriage	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0034241	HP:0003826	Stillbirth	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0034241	HP:0005268	Miscarriage	1	XIST CL E G H	7503	12810	OMIM:300087	X INACTIVATION, FAMILIAL SKEWED, 1; SXI1		2
HP:0034241	HP:0003826	Stillbirth	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (63) :ALB ALPL BIN1 CALCRL CENPF CEP55 CLN8 COL11A1 COL2A1 DLK1 DNM2 ENG ESCO2 FCGR3B FGA FGB FGG FLNA FLNB GBA1 GDF5 HBB HOXA13 HSPG2 HYLS1 IL6ST JAK2 LBR LGI4 MEG3 MGP MPL MTMR14 MUSK MYF6 NEK8 NLRP7 NSD2 NSDHL OSTM1 PHGDH PITX1 PLIN1 POR PTH1R RAD51C REC114 RHAG RHCE RHD RNU4ATAC RTL1 RYR1 SERPINC1 SERPINE1 SLC26A2 SLC35D1 THPO TRIP11 WRN WT1 XIST ZMPSTE24

Diseases (54) :ORPHA:86816 OMIM:241500 ORPHA:169189 OMIM:618773 OMIM:243605 OMIM:236500 ORPHA:1947 OMIM:228520 OMIM:200610 OMIM:151210 ORPHA:96334 OMIM:187300 OMIM:268300 ORPHA:464370 ORPHA:98880 OMIM:309350 OMIM:304120 OMIM:108720 ORPHA:85212 OMIM:200700 ORPHA:2133 ORPHA:2438 ORPHA:1865 OMIM:236680 OMIM:619751 ORPHA:71493 OMIM:215140 OMIM:617468 OMIM:245150 OMIM:208150 OMIM:615415 OMIM:231090 OMIM:619695 OMIM:308050 OMIM:259720 OMIM:256520 OMIM:119800 OMIM:613877 ORPHA:95699 OMIM:215045 OMIM:613390 OMIM:619176 ORPHA:71275 OMIM:210710 ORPHA:82 ORPHA:465 OMIM:600972 OMIM:256050 OMIM:269250 OMIM:200600 ORPHA:902 OMIM:608978 OMIM:300087 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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