Human Phenotype Ontology

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:0012294	HP:0012294	Abnormal occipital bone morphology	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly		132
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly		12
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)		46
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		334
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis		19
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly		18
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type		13
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0012294	HP:0012294	Abnormal occipital bone morphology	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly		132
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly		12
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)		46
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		334
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis		19
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly		18
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type		13
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0012294	HP:0011217	Abnormal shape of the occiput	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0012294	HP:0005469	Flat occiput	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0012294	HP:0000269	Prominent occiput	2	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	132
HP:0012294	HP:0005469	Flat occiput	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0012294	HP:0005469	Flat occiput	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0012294	HP:0000269	Prominent occiput	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0012294	HP:0000269	Prominent occiput	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0012294	HP:0000269	Prominent occiput	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0012294	HP:0000269	Prominent occiput	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0012294	HP:0000269	Prominent occiput	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0012294	HP:0000269	Prominent occiput	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0012294	HP:0000269	Prominent occiput	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0012294	HP:0000269	Prominent occiput	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0012294	HP:0000269	Prominent occiput	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012294	HP:0000269	Prominent occiput	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0012294	HP:0005469	Flat occiput	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0012294	HP:0005469	Flat occiput	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0012294	HP:0005469	Flat occiput	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0012294	HP:0005469	Flat occiput	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0012294	HP:0000269	Prominent occiput	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0012294	HP:0005469	Flat occiput	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0012294	HP:0005469	Flat occiput	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0012294	HP:0005469	Flat occiput	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0012294	HP:0000269	Prominent occiput	2	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	12
HP:0012294	HP:0005469	Flat occiput	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0012294	HP:0005469	Flat occiput	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0012294	HP:0000269	Prominent occiput	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0012294	HP:0000269	Prominent occiput	2	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0012294	HP:0000269	Prominent occiput	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0012294	HP:0000269	Prominent occiput	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0012294	HP:0000269	Prominent occiput	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0012294	HP:0000269	Prominent occiput	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0012294	HP:0000269	Prominent occiput	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0012294	HP:0000269	Prominent occiput	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0012294	HP:0005469	Flat occiput	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0012294	HP:0000269	Prominent occiput	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0012294	HP:0000269	Prominent occiput	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012294	HP:0000269	Prominent occiput	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0012294	HP:0000269	Prominent occiput	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0012294	HP:0000269	Prominent occiput	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0012294	HP:0000269	Prominent occiput	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0012294	HP:0000269	Prominent occiput	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0012294	HP:0005469	Flat occiput	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0012294	HP:0005469	Flat occiput	2	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040282 - Frequent	18
HP:0012294	HP:0000269	Prominent occiput	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0012294	HP:0000269	Prominent occiput	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0012294	HP:0000269	Prominent occiput	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0012294	HP:0000269	Prominent occiput	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0012294	HP:0000269	Prominent occiput	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0012294	HP:0000269	Prominent occiput	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0012294	HP:0000269	Prominent occiput	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0012294	HP:0005469	Flat occiput	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0012294	HP:0000269	Prominent occiput	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0012294	HP:0000269	Prominent occiput	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0012294	HP:0000269	Prominent occiput	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0012294	HP:0005469	Flat occiput	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent	68
HP:0012294	HP:0000269	Prominent occiput	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0012294	HP:0005469	Flat occiput	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0012294	HP:0005469	Flat occiput	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0012294	HP:0005469	Flat occiput	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0012294	HP:0005469	Flat occiput	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0012294	HP:0000269	Prominent occiput	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0012294	HP:0000269	Prominent occiput	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0012294	HP:0005469	Flat occiput	2	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	HP:0040283 - Occasional	13
HP:0012294	HP:0000269	Prominent occiput	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0012294	HP:0000269	Prominent occiput	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0012294	HP:0000269	Prominent occiput	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0012294	HP:0000269	Prominent occiput	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0012294	HP:0000269	Prominent occiput	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0012294	HP:0000269	Prominent occiput	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0012294	HP:0000269	Prominent occiput	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0012294	HP:0005469	Flat occiput	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0012294	HP:0005469	Flat occiput	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0012294	HP:0005469	Flat occiput	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0012294	HP:0005469	Flat occiput	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0012294	HP:0005469	Flat occiput	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0012294	HP:0005469	Flat occiput	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0012294	HP:0005469	Flat occiput	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0012294	HP:0005469	Flat occiput	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0012294	HP:0005469	Flat occiput	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0012294	HP:0005469	Flat occiput	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0012294	HP:0005469	Flat occiput	2	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0012294	HP:0005469	Flat occiput	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0012294	HP:0005469	Flat occiput	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0012294	HP:0005469	Flat occiput	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0012294	HP:0005469	Flat occiput	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0012294	HP:0005469	Flat occiput	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0012294	HP:0005469	Flat occiput	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0012294	HP:0005469	Flat occiput	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0012294	HP:0005469	Flat occiput	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0012294	HP:0005469	Flat occiput	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0012294	HP:0000269	Prominent occiput	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0012294	HP:0000269	Prominent occiput	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0012294	HP:0000269	Prominent occiput	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012294	HP:0005469	Flat occiput	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012294	HP:0005469	Flat occiput	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0012294	HP:0005469	Flat occiput	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0012294	HP:0000269	Prominent occiput	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0012294	HP:0000269	Prominent occiput	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0012294	HP:0000269	Prominent occiput	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0012294	HP:0000269	Prominent occiput	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0012294	HP:0005469	Flat occiput	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0012294	HP:0005469	Flat occiput	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0012294	HP:0005469	Flat occiput	2	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012294	HP:0005469	Flat occiput	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0012294	HP:0005469	Flat occiput	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0012294	HP:0005469	Flat occiput	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0012294	HP:0005469	Flat occiput	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0012294	HP:0000269	Prominent occiput	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0012294	HP:0005469	Flat occiput	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0012294	HP:0005469	Flat occiput	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0012294	HP:0000269	Prominent occiput	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0012294	HP:0005469	Flat occiput	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0012294	HP:0005469	Flat occiput	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0012294	HP:0000269	Prominent occiput	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0012294	HP:0000269	Prominent occiput	2	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0012294	HP:0000269	Prominent occiput	2	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0012294	HP:0005469	Flat occiput	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0012294	HP:0000269	Prominent occiput	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0012294	HP:0005469	Flat occiput	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0012294	HP:0000269	Prominent occiput	2	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0012294	HP:0000269	Prominent occiput	2	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	18
HP:0012294	HP:0005469	Flat occiput	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0012294	HP:0005469	Flat occiput	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0012294	HP:0005469	Flat occiput	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0012294	HP:0005469	Flat occiput	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent	13
HP:0012294	HP:0005469	Flat occiput	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0012294	HP:0000269	Prominent occiput	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0012294	HP:0000269	Prominent occiput	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0012294	HP:0000269	Prominent occiput	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0012294	HP:0000269	Prominent occiput	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136
HP:0012294	HP:0005469	Flat occiput	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0012294	HP:0005469	Flat occiput	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5