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:
Abnormality of the forehead (HP:0000290)

Grandparent Node:
Abnormality of the hairline (HP:0009553)

Parent Node:
Abnormality of the frontal hairline (HP:0000599)

..Starting node
..Low anterior hairline (HP:0000294)

Term ID:

294

Name:

Low anterior hairline

Synonym:

Low frontal hairline; Low-set frontal hairline

Definition:

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.

Comments:

Reference:

HP:0000294

Genes and Diseases:

Child Nodes:

Sister Nodes:

Extension of hair growth on temples to lateral eyebrow (HP:0005325)

High anterior hairline (HP:0009890)

obsolete Pointed frontal hairline (HP:0004544)

Sparse anterior scalp hair (HP:0004768)

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:0000294	HP:0000294	Low anterior hairline	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0000294	HP:0000294	Low anterior hairline	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000294	HP:0000294	Low anterior hairline	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0000294	HP:0000294	Low anterior hairline	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000294	HP:0000294	Low anterior hairline	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000294	HP:0000294	Low anterior hairline	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0000294	HP:0000294	Low anterior hairline	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0000294	HP:0000294	Low anterior hairline	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0000294	HP:0000294	Low anterior hairline	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0000294	HP:0000294	Low anterior hairline	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000294	HP:0000294	Low anterior hairline	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000294	HP:0000294	Low anterior hairline	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000294	HP:0000294	Low anterior hairline	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0000294	HP:0000294	Low anterior hairline	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000294	HP:0000294	Low anterior hairline	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000294	HP:0000294	Low anterior hairline	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000294	HP:0000294	Low anterior hairline	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0000294	HP:0000294	Low anterior hairline	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0000294	HP:0000294	Low anterior hairline	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0000294	HP:0000294	Low anterior hairline	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000294	HP:0000294	Low anterior hairline	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0000294	HP:0000294	Low anterior hairline	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000294	HP:0000294	Low anterior hairline	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000294	HP:0000294	Low anterior hairline	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000294	HP:0000294	Low anterior hairline	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0000294	HP:0000294	Low anterior hairline	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0000294	HP:0000294	Low anterior hairline	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0000294	HP:0000294	Low anterior hairline	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000294	HP:0000294	Low anterior hairline	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0000294	HP:0000294	Low anterior hairline	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0000294	HP:0000294	Low anterior hairline	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional	5
HP:0000294	HP:0000294	Low anterior hairline	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000294	HP:0000294	Low anterior hairline	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0000294	HP:0000294	Low anterior hairline	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000294	HP:0000294	Low anterior hairline	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000294	HP:0000294	Low anterior hairline	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0000294	HP:0000294	Low anterior hairline	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000294	HP:0000294	Low anterior hairline	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0000294	HP:0000294	Low anterior hairline	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0000294	HP:0000294	Low anterior hairline	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000294	HP:0000294	Low anterior hairline	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0000294	HP:0000294	Low anterior hairline	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0000294	HP:0000294	Low anterior hairline	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000294	HP:0000294	Low anterior hairline	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000294	HP:0000294	Low anterior hairline	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0000294	HP:0000294	Low anterior hairline	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000294	HP:0000294	Low anterior hairline	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000294	HP:0000294	Low anterior hairline	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional	91
HP:0000294	HP:0000294	Low anterior hairline	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0000294	HP:0000294	Low anterior hairline	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0000294	HP:0000294	Low anterior hairline	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000294	HP:0000294	Low anterior hairline	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0000294	HP:0000294	Low anterior hairline	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000294	HP:0000294	Low anterior hairline	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.	1
HP:0000294	HP:0000294	Low anterior hairline	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000294	HP:0000294	Low anterior hairline	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0000294	HP:0000294	Low anterior hairline	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0000294	HP:0000294	Low anterior hairline	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000294	HP:0000294	Low anterior hairline	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000294	HP:0000294	Low anterior hairline	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0000294	HP:0000294	Low anterior hairline	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000294	HP:0000294	Low anterior hairline	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000294	HP:0000294	Low anterior hairline	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000294	HP:0000294	Low anterior hairline	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0000294	HP:0000294	Low anterior hairline	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0000294	HP:0000294	Low anterior hairline	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0000294	HP:0000294	Low anterior hairline	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0000294	HP:0000294	Low anterior hairline	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000294	HP:0000294	Low anterior hairline	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0000294	HP:0000294	Low anterior hairline	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0000294	HP:0000294	Low anterior hairline	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000294	HP:0000294	Low anterior hairline	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0000294	HP:0000294	Low anterior hairline	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000294	HP:0000294	Low anterior hairline	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0000294	HP:0000294	Low anterior hairline	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000294	HP:0000294	Low anterior hairline	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0000294	HP:0000294	Low anterior hairline	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0000294	HP:0000294	Low anterior hairline	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0000294	HP:0000294	Low anterior hairline	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000294	HP:0000294	Low anterior hairline	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0000294	HP:0000294	Low anterior hairline	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000294	HP:0000294	Low anterior hairline	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000294	HP:0000294	Low anterior hairline	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000294	HP:0000294	Low anterior hairline	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0000294	HP:0000294	Low anterior hairline	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000294	HP:0000294	Low anterior hairline	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000294	HP:0000294	Low anterior hairline	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000294	HP:0000294	Low anterior hairline	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000294	HP:0000294	Low anterior hairline	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000294	HP:0000294	Low anterior hairline	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000294	HP:0000294	Low anterior hairline	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000294	HP:0000294	Low anterior hairline	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000294	HP:0000294	Low anterior hairline	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000294	HP:0000294	Low anterior hairline	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0000294	HP:0000294	Low anterior hairline	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0000294	HP:0000294	Low anterior hairline	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0000294	HP:0000294	Low anterior hairline	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000294	HP:0000294	Low anterior hairline	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0000294	HP:0000294	Low anterior hairline	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0000294	HP:0000294	Low anterior hairline	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000294	HP:0000294	Low anterior hairline	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000294	HP:0000294	Low anterior hairline	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000294	HP:0000294	Low anterior hairline	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000294	HP:0000294	Low anterior hairline	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000294	HP:0000294	Low anterior hairline	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000294	HP:0000294	Low anterior hairline	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000294	HP:0000294	Low anterior hairline	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000294	HP:0000294	Low anterior hairline	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000294	HP:0000294	Low anterior hairline	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000294	HP:0000294	Low anterior hairline	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0000294	HP:0000294	Low anterior hairline	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000294	HP:0000294	Low anterior hairline	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000294	HP:0000294	Low anterior hairline	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0000294	HP:0000294	Low anterior hairline	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000294	HP:0000294	Low anterior hairline	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0000294	HP:0000294	Low anterior hairline	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000294	HP:0000294	Low anterior hairline	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000294	HP:0000294	Low anterior hairline	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0000294	HP:0000294	Low anterior hairline	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000294	HP:0000294	Low anterior hairline	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000294	HP:0000294	Low anterior hairline	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0000294	HP:0000294	Low anterior hairline	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000294	HP:0000294	Low anterior hairline	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000294	HP:0000294	Low anterior hairline	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000294	HP:0000294	Low anterior hairline	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000294	HP:0000294	Low anterior hairline	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000294	HP:0000294	Low anterior hairline	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000294	HP:0000294	Low anterior hairline	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0000294	HP:0000294	Low anterior hairline	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000294	HP:0000294	Low anterior hairline	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000294	HP:0000294	Low anterior hairline	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0000294	HP:0000294	Low anterior hairline	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000294	HP:0000294	Low anterior hairline	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional	28
HP:0000294	HP:0000294	Low anterior hairline	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0000294	HP:0000294	Low anterior hairline	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0000294	HP:0000294	Low anterior hairline	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0000294	HP:0000294	Low anterior hairline	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000294	HP:0000294	Low anterior hairline	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000294	HP:0000294	Low anterior hairline	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0000294	HP:0000294	Low anterior hairline	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000294	HP:0000294	Low anterior hairline	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000294	HP:0000294	Low anterior hairline	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000294	HP:0000294	Low anterior hairline	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000294	HP:0000294	Low anterior hairline	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000294	HP:0000294	Low anterior hairline	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000294	HP:0000294	Low anterior hairline	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0000294	HP:0000294	Low anterior hairline	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0000294	HP:0000294	Low anterior hairline	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000294	HP:0000294	Low anterior hairline	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0000294	HP:0000294	Low anterior hairline	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0000294	HP:0000294	Low anterior hairline	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000294	HP:0000294	Low anterior hairline	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (135) :ABCC9 ADA2 AGPAT2 AIFM1 ANKRD11 ARID1A ARID1B ARID2 ARX ASH1L ASXL1 ATP6V1B2 BICRA BRCA1 BRD4 BSCL2 CAV1 CAVIN1 CDC42BPB CDK5 CLCN3 COG7 CREBBP DOCK6 DOCK7 DPF2 DPM2 EMC1 EP300 ERMARD FGFR2 FGFR3 FKRP FOS FRMD4A GATA1 H3-3A H4C5 HDAC8 HSPG2 IGF1 INSR KCNH1 KCNJ8 KCNN3 KREMEN1 LIG4 LRPPRC MAB21L1 MAN2B1 MAP3K7 MAPRE2 MED13L MEGF8 NANS NBN NIPBL NOTCH2 NSUN2 NUDT2 PACS1 PEPD PGAP1 PIK3C2A POLR1B POLR1C POLR1D PPARG PPP1R15B PRDM13 RAB18 RAB3GAP2 RAD21 RALGAPA1 RBL2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SETD5 SH2B1 SLC12A6 SLC25A24 SLC35C1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD4 SOX11 SOX4 SPATA5L1 SPEN SPOP STAG2 SVBP TAF6 TBC1D20 TBC1D24 TBX2 TCF12 TCOF1 TECPR2 TMCO1 TRIO TRMT10A TSR2 TTC5 TWIST1 TWIST2 VPS13B VPS33A XRCC4 ZIC1 ZNF699

Diseases (105) :ORPHA:1517 ORPHA:124 ORPHA:528 OMIM:300232 OMIM:148050 ORPHA:1465 OMIM:614607 OMIM:300004 OMIM:617796 OMIM:605039 ORPHA:79500 OMIM:619325 OMIM:617883 ORPHA:199 OMIM:619841 OMIM:616342 OMIM:619512 OMIM:608779 OMIM:180849 OMIM:614219 ORPHA:411986 OMIM:615859 ORPHA:329178 OMIM:616875 ORPHA:480898 ORPHA:75857 OMIM:101400 ORPHA:794 OMIM:602849 OMIM:613153 OMIM:616819 ORPHA:466688 OMIM:619720 OMIM:619950 OMIM:300882 ORPHA:800 ORPHA:73272 ORPHA:769 ORPHA:420561 OMIM:135500 OMIM:618658 OMIM:617392 ORPHA:235 ORPHA:99812 OMIM:220111 OMIM:618479 OMIM:248500 OMIM:617137 OMIM:616734 ORPHA:369891 OMIM:614976 OMIM:610442 ORPHA:647 ORPHA:955 OMIM:619844 ORPHA:329224 OMIM:615009 ORPHA:742 OMIM:615802 OMIM:618440 ORPHA:861 ORPHA:391408 OMIM:619909 OMIM:614222 OMIM:212720 OMIM:614225 OMIM:618797 OMIM:619690 ORPHA:404440 OMIM:615761 ORPHA:261222 OMIM:218000 OMIM:612289 ORPHA:2095 ORPHA:99843 OMIM:619293 OMIM:601358 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:618622 OMIM:619616 OMIM:619312 OMIM:618828 OMIM:301022 OMIM:618569 OMIM:617126 OMIM:615663 OMIM:220500 OMIM:618223 OMIM:615314 ORPHA:320385 OMIM:615031 OMIM:213980 OMIM:617061 OMIM:616033 OMIM:619244 OMIM:209885 OMIM:227260 ORPHA:193 OMIM:617303 OMIM:616602 OMIM:618736 OMIM:619488

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