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:
Abnormality of the scalp hair (HP:0100037)

Grandparent Node:
Congenital abnormal hair pattern (HP:0011361)

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

..Starting node
..Abnormality of the posterior hairline (HP:0030141)

Term ID:

30141

Name:

Abnormality of the posterior hairline

Synonym:

Abnormality of hairline at back of head

Definition:

An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.

Comments:

Reference:

HP:0030141

Genes and Diseases:

Child Nodes:

........

Low posterior hairline (HP:0002162)

........

High posterior hairline (HP:0012891)

Sister Nodes:

Abnormality of the frontal hairline (HP:0000599)

Preauricular hair displacement (HP:0009554)

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:0030141	HP:0030141	Abnormality of the posterior hairline	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome		7
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome		64
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0030141	HP:0030141	Abnormality of the posterior hairline	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030141	HP:0012891	High posterior hairline	1	CL E G H
HP:0030141	HP:0002162	Low posterior hairline	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0030141	HP:0002162	Low posterior hairline	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0030141	HP:0002162	Low posterior hairline	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0030141	HP:0002162	Low posterior hairline	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0030141	HP:0002162	Low posterior hairline	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0030141	HP:0002162	Low posterior hairline	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0030141	HP:0002162	Low posterior hairline	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0030141	HP:0002162	Low posterior hairline	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0030141	HP:0002162	Low posterior hairline	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0030141	HP:0002162	Low posterior hairline	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0030141	HP:0002162	Low posterior hairline	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0030141	HP:0002162	Low posterior hairline	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0030141	HP:0002162	Low posterior hairline	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0030141	HP:0002162	Low posterior hairline	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0030141	HP:0002162	Low posterior hairline	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0030141	HP:0002162	Low posterior hairline	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0030141	HP:0002162	Low posterior hairline	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0030141	HP:0002162	Low posterior hairline	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0030141	HP:0002162	Low posterior hairline	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0030141	HP:0002162	Low posterior hairline	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0030141	HP:0002162	Low posterior hairline	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0030141	HP:0002162	Low posterior hairline	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0030141	HP:0002162	Low posterior hairline	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	317
HP:0030141	HP:0002162	Low posterior hairline	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0030141	HP:0002162	Low posterior hairline	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0030141	HP:0002162	Low posterior hairline	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0030141	HP:0002162	Low posterior hairline	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0030141	HP:0002162	Low posterior hairline	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0030141	HP:0002162	Low posterior hairline	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0030141	HP:0002162	Low posterior hairline	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0030141	HP:0002162	Low posterior hairline	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0030141	HP:0002162	Low posterior hairline	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0030141	HP:0002162	Low posterior hairline	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0030141	HP:0002162	Low posterior hairline	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0030141	HP:0002162	Low posterior hairline	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0030141	HP:0002162	Low posterior hairline	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0030141	HP:0002162	Low posterior hairline	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0030141	HP:0002162	Low posterior hairline	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0030141	HP:0002162	Low posterior hairline	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0030141	HP:0002162	Low posterior hairline	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0030141	HP:0002162	Low posterior hairline	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0030141	HP:0002162	Low posterior hairline	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	7
HP:0030141	HP:0002162	Low posterior hairline	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	64
HP:0030141	HP:0002162	Low posterior hairline	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0030141	HP:0002162	Low posterior hairline	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0030141	HP:0002162	Low posterior hairline	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0030141	HP:0002162	Low posterior hairline	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0030141	HP:0002162	Low posterior hairline	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0030141	HP:0002162	Low posterior hairline	1	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:0030141	HP:0002162	Low posterior hairline	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0030141	HP:0002162	Low posterior hairline	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0030141	HP:0002162	Low posterior hairline	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0030141	HP:0002162	Low posterior hairline	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0030141	HP:0002162	Low posterior hairline	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0030141	HP:0002162	Low posterior hairline	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0030141	HP:0002162	Low posterior hairline	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	196
HP:0030141	HP:0002162	Low posterior hairline	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0030141	HP:0002162	Low posterior hairline	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0030141	HP:0002162	Low posterior hairline	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	43
HP:0030141	HP:0002162	Low posterior hairline	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0030141	HP:0002162	Low posterior hairline	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0030141	HP:0002162	Low posterior hairline	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0030141	HP:0002162	Low posterior hairline	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0030141	HP:0002162	Low posterior hairline	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0030141	HP:0002162	Low posterior hairline	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0030141	HP:0002162	Low posterior hairline	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0030141	HP:0002162	Low posterior hairline	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0030141	HP:0002162	Low posterior hairline	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	5
HP:0030141	HP:0002162	Low posterior hairline	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0030141	HP:0002162	Low posterior hairline	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0030141	HP:0002162	Low posterior hairline	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0030141	HP:0002162	Low posterior hairline	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0030141	HP:0002162	Low posterior hairline	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0030141	HP:0002162	Low posterior hairline	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0030141	HP:0002162	Low posterior hairline	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030141	HP:0002162	Low posterior hairline	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0030141	HP:0002162	Low posterior hairline	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0030141	HP:0002162	Low posterior hairline	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0030141	HP:0002162	Low posterior hairline	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0030141	HP:0002162	Low posterior hairline	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	102
HP:0030141	HP:0002162	Low posterior hairline	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0030141	HP:0002162	Low posterior hairline	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0030141	HP:0002162	Low posterior hairline	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0030141	HP:0002162	Low posterior hairline	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0030141	HP:0002162	Low posterior hairline	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0030141	HP:0002162	Low posterior hairline	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0030141	HP:0002162	Low posterior hairline	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional	23
HP:0030141	HP:0002162	Low posterior hairline	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0030141	HP:0002162	Low posterior hairline	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0030141	HP:0002162	Low posterior hairline	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0030141	HP:0002162	Low posterior hairline	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0030141	HP:0002162	Low posterior hairline	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	9
HP:0030141	HP:0002162	Low posterior hairline	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0030141	HP:0002162	Low posterior hairline	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	291
HP:0030141	HP:0002162	Low posterior hairline	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0030141	HP:0002162	Low posterior hairline	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	90
HP:0030141	HP:0002162	Low posterior hairline	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	135
HP:0030141	HP:0002162	Low posterior hairline	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0030141	HP:0002162	Low posterior hairline	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0030141	HP:0002162	Low posterior hairline	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	212
HP:0030141	HP:0002162	Low posterior hairline	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	3
HP:0030141	HP:0002162	Low posterior hairline	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	39
HP:0030141	HP:0002162	Low posterior hairline	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0030141	HP:0002162	Low posterior hairline	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0030141	HP:0002162	Low posterior hairline	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	1
HP:0030141	HP:0002162	Low posterior hairline	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0030141	HP:0002162	Low posterior hairline	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0030141	HP:0002162	Low posterior hairline	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	74
HP:0030141	HP:0002162	Low posterior hairline	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0030141	HP:0002162	Low posterior hairline	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0030141	HP:0002162	Low posterior hairline	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0030141	HP:0002162	Low posterior hairline	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0030141	HP:0002162	Low posterior hairline	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0030141	HP:0002162	Low posterior hairline	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	315
HP:0030141	HP:0002162	Low posterior hairline	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	30
HP:0030141	HP:0002162	Low posterior hairline	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0030141	HP:0002162	Low posterior hairline	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0030141	HP:0002162	Low posterior hairline	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0030141	HP:0002162	Low posterior hairline	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0030141	HP:0002162	Low posterior hairline	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0030141	HP:0002162	Low posterior hairline	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0030141	HP:0002162	Low posterior hairline	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0030141	HP:0002162	Low posterior hairline	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0030141	HP:0002162	Low posterior hairline	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0030141	HP:0002162	Low posterior hairline	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0030141	HP:0002162	Low posterior hairline	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0030141	HP:0002162	Low posterior hairline	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0030141	HP:0002162	Low posterior hairline	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0030141	HP:0002162	Low posterior hairline	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0030141	HP:0002162	Low posterior hairline	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0030141	HP:0002162	Low posterior hairline	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0030141	HP:0002162	Low posterior hairline	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0030141	HP:0002162	Low posterior hairline	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0030141	HP:0002162	Low posterior hairline	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (109) :ABCC9 ACTB ACTG1 AEBP1 AGPAT2 ALDOA ALG12 ALG9 ANKRD11 APC ARHGEF2 B3GAT3 BRAF BRD4 BSCL2 CAV1 CAVIN1 CBL CCDC22 CDH2 CDK13 CHN1 CHRNG CHST3 CNOT3 CPLX1 CREBBP CTBP1 EDEM3 EFNB1 EP300 FGFRL1 FOS GDF3 GDF6 GNE H3-3A HDAC8 HUWE1 IGF1 INTU IRX5 KCNJ8 KDM4B KNSTRN KRAS LETM1 LZTR1 MADD MAFB MAP2K1 MAP2K2 MAPK1 MBD5 MEOX1 MRAS MYH3 MYO18B NANS NELFA NF1 NFIX NIPBL NOTCH3 NRAS NSD2 PEPD PGAP1 PHF8 PIGG PIK3C2A PIK3CD PPARG PPP1CB PTPN11 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RASA2 RIT1 RPS28 RRAS RRAS2 SALL4 SCNM1 SHOC2 SLC25A24 SMARCA2 SMARCD1 SMC1A SMC3 SOS1 SOS2 SPRED1 SPRED2 SRCAP SRY TBX15 TFAP2A TMCO1 UBE2A USB1 VPS33A VPS51 WASHC5 WBP11 XYLT2 ZNF699

Diseases (85) :ORPHA:1517 ORPHA:2995 OMIM:243310 OMIM:618000 ORPHA:528 OMIM:611881 ORPHA:79324 ORPHA:79328 OMIM:148050 ORPHA:261584 OMIM:617523 OMIM:245600 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:199 ORPHA:648 OMIM:300963 OMIM:618929 OMIM:617360 ORPHA:233 ORPHA:2990 OMIM:618672 ORPHA:280 OMIM:194190 OMIM:180849 OMIM:619493 ORPHA:1520 OMIM:304110 ORPHA:2345 OMIM:118100 OMIM:269921 OMIM:619720 OMIM:309590 ORPHA:73272 OMIM:617925 OMIM:611174 OMIM:619320 ORPHA:221139 OMIM:605275 OMIM:619004 OMIM:619087 OMIM:156200 OMIM:214300 OMIM:616549 OMIM:610442 OMIM:601321 ORPHA:420179 OMIM:122470 ORPHA:2789 OMIM:613224 OMIM:170100 OMIM:615802 OMIM:300263 ORPHA:85287 OMIM:618440 ORPHA:2701 OMIM:617506 ORPHA:1387 OMIM:212720 OMIM:606164 OMIM:620107 OMIM:612289 OMIM:601358 OMIM:618779 OMIM:611431 OMIM:619745 OMIM:136140 ORPHA:1772 ORPHA:93333 OMIM:113620 ORPHA:1394 OMIM:213980 OMIM:300860 ORPHA:163956 OMIM:604173 OMIM:617303 OMIM:618606 OMIM:220210 OMIM:619227 ORPHA:85194 OMIM:605822 OMIM:619488

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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