Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Onset (HP:0003674)

Parent Node:
Antenatal onset (HP:0030674)

..Starting node
..Fetal onset (HP:0011461)

Term ID:

11461

Name:

Fetal onset

Synonym:

Foetal onset

Definition:

Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).

Comments:

Reference:

HP:0011461

Genes and Diseases:

Child Nodes:

Sister Nodes:

Embryonal onset (HP:0011460)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011461	HP:0011461	Fetal onset	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5	23
HP:0011461	HP:0011461	Fetal onset	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	46
HP:0011461	HP:0011461	Fetal onset	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	89
HP:0011461	HP:0011461	Fetal onset	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	132
HP:0011461	HP:0011461	Fetal onset	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD	239
HP:0011461	HP:0011461	Fetal onset	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	17
HP:0011461	HP:0011461	Fetal onset	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	34
HP:0011461	HP:0011461	Fetal onset	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	78
HP:0011461	HP:0011461	Fetal onset	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15	13
HP:0011461	HP:0011461	Fetal onset	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	247
HP:0011461	HP:0011461	Fetal onset	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0011461	HP:0011461	Fetal onset	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011461	HP:0011461	Fetal onset	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	20
HP:0011461	HP:0011461	Fetal onset	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	515
HP:0011461	HP:0011461	Fetal onset	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	68
HP:0011461	HP:0011461	Fetal onset	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome	3
HP:0011461	HP:0011461	Fetal onset	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	38
HP:0011461	HP:0011461	Fetal onset	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	284
HP:0011461	HP:0011461	Fetal onset	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011461	HP:0011461	Fetal onset	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0011461	HP:0011461	Fetal onset	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	101
HP:0011461	HP:0011461	Fetal onset	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	4
HP:0011461	HP:0011461	Fetal onset	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2	36
HP:0011461	HP:0011461	Fetal onset	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011461	HP:0011461	Fetal onset	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	45
HP:0011461	HP:0011461	Fetal onset	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	7
HP:0011461	HP:0011461	Fetal onset	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	83
HP:0011461	HP:0011461	Fetal onset	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	55
HP:0011461	HP:0011461	Fetal onset	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0011461	HP:0011461	Fetal onset	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0011461	HP:0011461	Fetal onset	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	81
HP:0011461	HP:0011461	Fetal onset	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	58
HP:0011461	HP:0011461	Fetal onset	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0011461	HP:0011461	Fetal onset	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0011461	HP:0011461	Fetal onset	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	13
HP:0011461	HP:0011461	Fetal onset	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	70
HP:0011461	HP:0011461	Fetal onset	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011461	HP:0011461	Fetal onset	0	GFRA1 CL E G H	2674	4243	OMIM:619887		1
HP:0011461	HP:0011461	Fetal onset	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011461	HP:0011461	Fetal onset	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	240
HP:0011461	HP:0011461	Fetal onset	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	54
HP:0011461	HP:0011461	Fetal onset	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	38
HP:0011461	HP:0011461	Fetal onset	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	28
HP:0011461	HP:0011461	Fetal onset	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0011461	HP:0011461	Fetal onset	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011461	HP:0011461	Fetal onset	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0011461	HP:0011461	Fetal onset	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	53
HP:0011461	HP:0011461	Fetal onset	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21	4
HP:0011461	HP:0011461	Fetal onset	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO	4
HP:0011461	HP:0011461	Fetal onset	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG	4
HP:0011461	HP:0011461	Fetal onset	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0011461	HP:0011461	Fetal onset	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2	18
HP:0011461	HP:0011461	Fetal onset	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	167
HP:0011461	HP:0011461	Fetal onset	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	42
HP:0011461	HP:0011461	Fetal onset	0	KMT2B CL E G H	9757	15840	OMIM:619934		11
HP:0011461	HP:0011461	Fetal onset	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	660
HP:0011461	HP:0011461	Fetal onset	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	70
HP:0011461	HP:0011461	Fetal onset	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	6
HP:0011461	HP:0011461	Fetal onset	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2	645
HP:0011461	HP:0011461	Fetal onset	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0011461	HP:0011461	Fetal onset	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	63
HP:0011461	HP:0011461	Fetal onset	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	11
HP:0011461	HP:0011461	Fetal onset	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011461	HP:0011461	Fetal onset	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0011461	HP:0011461	Fetal onset	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	158
HP:0011461	HP:0011461	Fetal onset	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	45
HP:0011461	HP:0011461	Fetal onset	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	5
HP:0011461	HP:0011461	Fetal onset	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011461	HP:0011461	Fetal onset	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28	127
HP:0011461	HP:0011461	Fetal onset	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	127
HP:0011461	HP:0011461	Fetal onset	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2	418
HP:0011461	HP:0011461	Fetal onset	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	2
HP:0011461	HP:0011461	Fetal onset	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0011461	HP:0011461	Fetal onset	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	43
HP:0011461	HP:0011461	Fetal onset	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	1
HP:0011461	HP:0011461	Fetal onset	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	544
HP:0011461	HP:0011461	Fetal onset	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST	118
HP:0011461	HP:0011461	Fetal onset	0	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15	1
HP:0011461	HP:0011461	Fetal onset	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2	143
HP:0011461	HP:0011461	Fetal onset	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	43
HP:0011461	HP:0011461	Fetal onset	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0011461	HP:0011461	Fetal onset	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	30
HP:0011461	HP:0011461	Fetal onset	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	11
HP:0011461	HP:0011461	Fetal onset	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	46
HP:0011461	HP:0011461	Fetal onset	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53	7
HP:0011461	HP:0011461	Fetal onset	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0011461	HP:0011461	Fetal onset	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	759
HP:0011461	HP:0011461	Fetal onset	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	11
HP:0011461	HP:0011461	Fetal onset	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	5
HP:0011461	HP:0011461	Fetal onset	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2	9
HP:0011461	HP:0011461	Fetal onset	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011461	HP:0011461	Fetal onset	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	4
HP:0011461	HP:0011461	Fetal onset	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome	4
HP:0011461	HP:0011461	Fetal onset	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011461	HP:0011461	Fetal onset	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011461	HP:0011461	Fetal onset	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	53
HP:0011461	HP:0011461	Fetal onset	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	3
HP:0011461	HP:0011461	Fetal onset	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	25
HP:0011461	HP:0011461	Fetal onset	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	69
HP:0011461	HP:0011461	Fetal onset	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	37
HP:0011461	HP:0011461	Fetal onset	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011461	HP:0011461	Fetal onset	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35	10
HP:0011461	HP:0011461	Fetal onset	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS	1200
HP:0011461	HP:0011461	Fetal onset	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3	1134
HP:0011461	HP:0011461	Fetal onset	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg	304
HP:0011461	HP:0011461	Fetal onset	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3	129
HP:0011461	HP:0011461	Fetal onset	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011461	HP:0011461	Fetal onset	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	9
HP:0011461	HP:0011461	Fetal onset	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011461	HP:0011461	Fetal onset	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	75
HP:0011461	HP:0011461	Fetal onset	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	1
HP:0011461	HP:0011461	Fetal onset	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	2
HP:0011461	HP:0011461	Fetal onset	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	9
HP:0011461	HP:0011461	Fetal onset	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	2
HP:0011461	HP:0011461	Fetal onset	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011461	HP:0011461	Fetal onset	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011461	HP:0011461	Fetal onset	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4	315
HP:0011461	HP:0011461	Fetal onset	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	61
HP:0011461	HP:0011461	Fetal onset	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	7
HP:0011461	HP:0011461	Fetal onset	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	18
HP:0011461	HP:0011461	Fetal onset	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	1129
HP:0011461	HP:0011461	Fetal onset	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B	4
HP:0011461	HP:0011461	Fetal onset	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	7
HP:0011461	HP:0011461	Fetal onset	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	5
HP:0011461	HP:0011461	Fetal onset	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	31
HP:0011461	HP:0011461	Fetal onset	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	45
HP:0011461	HP:0011461	Fetal onset	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	72
HP:0011461	HP:0011461	Fetal onset	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	248
HP:0011461	HP:0011461	Fetal onset	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011461	HP:0011461	Fetal onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y	230
HP:0011461	HP:0011461	Fetal onset	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	2
HP:0011461	HP:0011461	Fetal onset	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	133
HP:0011461	HP:0011461	Fetal onset	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	7
HP:0011461	HP:0011461	Fetal onset	0	TXNDC15 CL E G H	79770	20652	OMIM:619879		2
HP:0011461	HP:0011461	Fetal onset	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	2
HP:0011461	HP:0011461	Fetal onset	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	32
HP:0011461	HP:0011461	Fetal onset	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	95
HP:0011461	HP:0011461	Fetal onset	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0011461	HP:0011461	Fetal onset	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	12
HP:0011461	HP:0011461	Fetal onset	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	14
HP:0011461	HP:0011461	Fetal onset	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	34
HP:0011461	HP:0011461	Fetal onset	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	39
HP:0011461	HP:0011461	Fetal onset	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	83
HP:0011461	HP:0011461	Fetal onset	0	ZNF526 CL E G H	116115	29415	OMIM:619877		24
HP:0011461	HP:0034198	Second trimester onset	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	89
HP:0011461	HP:0034197	Third trimester onset	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	89
HP:0011461	HP:0034198	Second trimester onset	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	17
HP:0011461	HP:0034199	Late first trimester onset	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	78
HP:0011461	HP:0034198	Second trimester onset	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	78
HP:0011461	HP:0034198	Second trimester onset	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	284
HP:0011461	HP:0034198	Second trimester onset	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	4
HP:0011461	HP:0034198	Second trimester onset	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	83
HP:0011461	HP:0034197	Third trimester onset	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	58
HP:0011461	HP:0034198	Second trimester onset	1	GFRA1 CL E G H	2674	4243	OMIM:619887		1
HP:0011461	HP:0034197	Third trimester onset	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011461	HP:0034197	Third trimester onset	1	KMT2B CL E G H	9757	15840	OMIM:619934		11
HP:0011461	HP:0034198	Second trimester onset	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0011461	HP:0034197	Third trimester onset	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0011461	HP:0034198	Second trimester onset	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	127
HP:0011461	HP:0034198	Second trimester onset	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	2
HP:0011461	HP:0034198	Second trimester onset	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0011461	HP:0034198	Second trimester onset	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	43
HP:0011461	HP:0034197	Third trimester onset	1	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15	1
HP:0011461	HP:0034197	Third trimester onset	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	11
HP:0011461	HP:0034197	Third trimester onset	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	53
HP:0011461	HP:0034198	Second trimester onset	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	37
HP:0011461	HP:0034198	Second trimester onset	1	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3	1134
HP:0011461	HP:0034197	Third trimester onset	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg	304
HP:0011461	HP:0034197	Third trimester onset	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011461	HP:0034198	Second trimester onset	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	9
HP:0011461	HP:0034197	Third trimester onset	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	2
HP:0011461	HP:0034198	Second trimester onset	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	31
HP:0011461	HP:0034197	Third trimester onset	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	72
HP:0011461	HP:0034198	Second trimester onset	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	133
HP:0011461	HP:0034198	Second trimester onset	1	TXNDC15 CL E G H	79770	20652	OMIM:619879		2
HP:0011461	HP:0034199	Late first trimester onset	1	TXNDC15 CL E G H	79770	20652	OMIM:619879		2
HP:0011461	HP:0034197	Third trimester onset	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	39
HP:0011461	HP:0034197	Third trimester onset	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	83

Genes (142) :ACTG2 ALG8 ALPK3 ALX4 ATP1A2 B4GAT1 B9D2 BMPER CALM2 CC2D2A CCDC134 CDC42BPB CENPE CHD7 CHRNG CHUK CLPB COL2A1 COX16 CPSF3 CPT2 CREB3L1 DCC DEF6 DLL3 DYNC2LI1 ERCC5 ERCC8 EXOC7 EXOSC9 EZH2 FANCB FARSA FARSB FKBP14 FTO GBA1 GFRA1 GINS1 GNPTAB GUSB HERC2 IFIH1 IL6ST IPW KDELR2 KDM6A KIAA0753 KIDINS220 KIF20A KIF5C KIF7 KLF1 KMT2B KMT2D LBR LGI4 LMNA LMOD1 MAGEL2 MAP3K7 MCM10 MDFIC MEGF10 MESP2 MKRN3 MKRN3-AS1 MKS1 MYH11 MYRF NDUFB7 NEK8 NPAP1 NSD1 NSD2 NUP155 OBSL1 P3H1 PAICS PDX1 PI4KA PIGA PIGG PLCH1 PLEC PLG PLOD3 PPP1CB PRIM1 PRRX1 PSMD12 PWAR1 PWRN1 PYCR1 RAC1 RAD21 RIPK4 RMRP RNF2 RPL10 RYR1 SCN5A SDHA SDHD SHQ1 SIN3A SKIC2 SLC12A1 SLC30A9 SLC35A3 SLC35D1 SNAP25 SNORD115-1 SNORD116-1 SOS1 SOX10 SOX18 STT3B SYNE1 SYT2 TAF2 TBX18 TCTN3 TMEM216 TNFRSF11A TNNT2 TOGARAM1 TPM1 TRAIP TRIP11 TWIST2 TXNDC15 USP18 VRK1 WDR19 WDR4 WNT3 XYLT1 ZIC2 ZIC3 ZMPSTE24 ZNF526

Diseases (132) :OMIM:619431 OMIM:608104 OMIM:618052 OMIM:613451 OMIM:619602 OMIM:615287 OMIM:614175 OMIM:608022 OMIM:616249 OMIM:612284 OMIM:619795 OMIM:619841 OMIM:616051 OMIM:214800 OMIM:265000 OMIM:613630 OMIM:616271 OMIM:200610 OMIM:619355 OMIM:619876 OMIM:608836 OMIM:616229 OMIM:617542 OMIM:619573 OMIM:277300 OMIM:617088 OMIM:616570 OMIM:216400 OMIM:619072 OMIM:618065 OMIM:277590 OMIM:314390 OMIM:619013 OMIM:613658 OMIM:614557 OMIM:612938 OMIM:608013 OMIM:619887 OMIM:617827 OMIM:252500 OMIM:253220 OMIM:176270 OMIM:615846 OMIM:619751 OMIM:619131 OMIM:147920 OMIM:619479 OMIM:617296 OMIM:619501 OMIM:619433 OMIM:615282 OMIM:614120 OMIM:613673 OMIM:619934 OMIM:215140 OMIM:617468 OMIM:619793 OMIM:619362 OMIM:157800 OMIM:619313 OMIM:620014 OMIM:614399 OMIM:617121 OMIM:249000 OMIM:619351 OMIM:618280 OMIM:620135 OMIM:615415 OMIM:117550 OMIM:619695 OMIM:615770 OMIM:612921 OMIM:610915 OMIM:619859 OMIM:260370 OMIM:616531 OMIM:300868 OMIM:616917 OMIM:619895 OMIM:612138 OMIM:217090 OMIM:612394 OMIM:617506 OMIM:620005 OMIM:202650 OMIM:617516 OMIM:612940 OMIM:617751 OMIM:614701 OMIM:263650 OMIM:607095 OMIM:619460 OMIM:300998 OMIM:619542 OMIM:603830 OMIM:613642 OMIM:619167 OMIM:619922 OMIM:613406 OMIM:614602 OMIM:601678 OMIM:617595 OMIM:615553 OMIM:269250 OMIM:616330 OMIM:610733 OMIM:609136 OMIM:137940 OMIM:615597 OMIM:618484 OMIM:619461 OMIM:615599 OMIM:143400 OMIM:614815 OMIM:603194 OMIM:602080 OMIM:601494 OMIM:619185 OMIM:611878 OMIM:616777 OMIM:200600 OMIM:200110 OMIM:619879 OMIM:617397 OMIM:607596 OMIM:614377 OMIM:618347 OMIM:273395 OMIM:615777 OMIM:609637 OMIM:275210 OMIM:619877

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen