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:0002007	HP:0002007	Frontal bossing	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.	34
HP:0002007	HP:0002007	Frontal bossing	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0002007	HP:0002007	Frontal bossing	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002007	HP:0002007	Frontal bossing	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0002007	HP:0002007	Frontal bossing	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002007	HP:0002007	Frontal bossing	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0002007	HP:0002007	Frontal bossing	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0002007	HP:0002007	Frontal bossing	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0002007	HP:0002007	Frontal bossing	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0002007	HP:0002007	Frontal bossing	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0002007	HP:0002007	Frontal bossing	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0002007	HP:0002007	Frontal bossing	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0002007	HP:0002007	Frontal bossing	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0002007	HP:0002007	Frontal bossing	0	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	132
HP:0002007	HP:0002007	Frontal bossing	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0002007	HP:0002007	Frontal bossing	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0002007	HP:0002007	Frontal bossing	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0002007	HP:0002007	Frontal bossing	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0002007	HP:0002007	Frontal bossing	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0002007	HP:0002007	Frontal bossing	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0002007	HP:0002007	Frontal bossing	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	3179
HP:0002007	HP:0002007	Frontal bossing	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002007	HP:0002007	Frontal bossing	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0002007	HP:0002007	Frontal bossing	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0002007	HP:0002007	Frontal bossing	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0002007	HP:0002007	Frontal bossing	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0002007	HP:0002007	Frontal bossing	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0002007	HP:0002007	Frontal bossing	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0002007	HP:0002007	Frontal bossing	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:0002007	HP:0002007	Frontal bossing	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0002007	HP:0002007	Frontal bossing	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0002007	HP:0002007	Frontal bossing	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0002007	HP:0002007	Frontal bossing	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0002007	HP:0002007	Frontal bossing	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0002007	HP:0002007	Frontal bossing	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002007	HP:0002007	Frontal bossing	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0002007	HP:0002007	Frontal bossing	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0002007	HP:0002007	Frontal bossing	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0002007	HP:0002007	Frontal bossing	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0002007	HP:0002007	Frontal bossing	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0002007	HP:0002007	Frontal bossing	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0002007	HP:0002007	Frontal bossing	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0002007	HP:0002007	Frontal bossing	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0002007	HP:0002007	Frontal bossing	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0002007	HP:0002007	Frontal bossing	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002007	HP:0002007	Frontal bossing	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0002007	HP:0002007	Frontal bossing	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0002007	HP:0002007	Frontal bossing	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0002007	HP:0002007	Frontal bossing	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0002007	HP:0002007	Frontal bossing	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0002007	HP:0002007	Frontal bossing	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0002007	HP:0002007	Frontal bossing	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002007	HP:0002007	Frontal bossing	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002007	HP:0002007	Frontal bossing	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0002007	HP:0002007	Frontal bossing	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0002007	HP:0002007	Frontal bossing	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0002007	HP:0002007	Frontal bossing	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0002007	HP:0002007	Frontal bossing	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0002007	HP:0002007	Frontal bossing	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0002007	HP:0002007	Frontal bossing	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0002007	HP:0002007	Frontal bossing	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0002007	HP:0002007	Frontal bossing	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:0002007	HP:0002007	Frontal bossing	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0002007	HP:0002007	Frontal bossing	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0002007	HP:0002007	Frontal bossing	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent	102
HP:0002007	HP:0002007	Frontal bossing	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0002007	HP:0002007	Frontal bossing	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent	215
HP:0002007	HP:0002007	Frontal bossing	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0002007	HP:0002007	Frontal bossing	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040283 - Occasional	215
HP:0002007	HP:0002007	Frontal bossing	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0002007	HP:0002007	Frontal bossing	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002007	HP:0002007	Frontal bossing	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002007	HP:0002007	Frontal bossing	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0002007	HP:0002007	Frontal bossing	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0002007	HP:0002007	Frontal bossing	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002007	HP:0002007	Frontal bossing	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002007	HP:0002007	Frontal bossing	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0002007	HP:0002007	Frontal bossing	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0002007	HP:0002007	Frontal bossing	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002007	HP:0002007	Frontal bossing	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.	4
HP:0002007	HP:0002007	Frontal bossing	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002007	HP:0002007	Frontal bossing	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002007	HP:0002007	Frontal bossing	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0002007	HP:0002007	Frontal bossing	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.	2
HP:0002007	HP:0002007	Frontal bossing	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0002007	HP:0002007	Frontal bossing	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040281 - Very frequent	39
HP:0002007	HP:0002007	Frontal bossing	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0002007	HP:0002007	Frontal bossing	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0002007	HP:0002007	Frontal bossing	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0002007	HP:0002007	Frontal bossing	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002007	HP:0002007	Frontal bossing	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0002007	HP:0002007	Frontal bossing	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040282 - Frequent	41
HP:0002007	HP:0002007	Frontal bossing	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002007	HP:0002007	Frontal bossing	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040282 - Frequent	5
HP:0002007	HP:0002007	Frontal bossing	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002007	HP:0002007	Frontal bossing	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0002007	HP:0002007	Frontal bossing	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0002007	HP:0002007	Frontal bossing	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040282 - Frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.	2
HP:0002007	HP:0002007	Frontal bossing	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002007	HP:0002007	Frontal bossing	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0002007	HP:0002007	Frontal bossing	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0002007	HP:0002007	Frontal bossing	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0002007	HP:0002007	Frontal bossing	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0002007	HP:0002007	Frontal bossing	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.	670
HP:0002007	HP:0002007	Frontal bossing	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002007	HP:0002007	Frontal bossing	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:0002007	HP:0002007	Frontal bossing	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0002007	HP:0002007	Frontal bossing	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss		3
HP:0002007	HP:0002007	Frontal bossing	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0002007	HP:0002007	Frontal bossing	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0002007	HP:0002007	Frontal bossing	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0002007	HP:0002007	Frontal bossing	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0002007	HP:0002007	Frontal bossing	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0002007	HP:0002007	Frontal bossing	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0002007	HP:0002007	Frontal bossing	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0002007	HP:0002007	Frontal bossing	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0002007	HP:0002007	Frontal bossing	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0002007	HP:0002007	Frontal bossing	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0002007	HP:0002007	Frontal bossing	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040283 - Occasional	51
HP:0002007	HP:0002007	Frontal bossing	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002007	HP:0002007	Frontal bossing	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	115
HP:0002007	HP:0002007	Frontal bossing	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040282 - Frequent	11
HP:0002007	HP:0002007	Frontal bossing	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0002007	HP:0002007	Frontal bossing	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0002007	HP:0002007	Frontal bossing	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent	27
HP:0002007	HP:0002007	Frontal bossing	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0002007	HP:0002007	Frontal bossing	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0002007	HP:0002007	Frontal bossing	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0002007	HP:0002007	Frontal bossing	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002007	HP:0002007	Frontal bossing	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	6
HP:0002007	HP:0002007	Frontal bossing	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0002007	HP:0002007	Frontal bossing	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0002007	HP:0002007	Frontal bossing	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040281 - Very frequent	12
HP:0002007	HP:0002007	Frontal bossing	0	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	12
HP:0002007	HP:0002007	Frontal bossing	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0002007	HP:0002007	Frontal bossing	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0002007	HP:0002007	Frontal bossing	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0002007	HP:0002007	Frontal bossing	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0002007	HP:0002007	Frontal bossing	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0002007	HP:0002007	Frontal bossing	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0002007	HP:0002007	Frontal bossing	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002007	HP:0002007	Frontal bossing	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0002007	HP:0002007	Frontal bossing	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002007	HP:0002007	Frontal bossing	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0002007	HP:0002007	Frontal bossing	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0002007	HP:0002007	Frontal bossing	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0002007	HP:0002007	Frontal bossing	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0002007	HP:0002007	Frontal bossing	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0002007	HP:0002007	Frontal bossing	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0002007	HP:0002007	Frontal bossing	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0002007	HP:0002007	Frontal bossing	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0002007	HP:0002007	Frontal bossing	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040281 - Very frequent	175
HP:0002007	HP:0002007	Frontal bossing	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0002007	HP:0002007	Frontal bossing	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040281 - Very frequent	145
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent	145
HP:0002007	HP:0002007	Frontal bossing	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0002007	HP:0002007	Frontal bossing	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0002007	HP:0002007	Frontal bossing	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0002007	HP:0002007	Frontal bossing	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0002007	HP:0002007	Frontal bossing	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0002007	HP:0002007	Frontal bossing	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0002007	HP:0002007	Frontal bossing	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002007	HP:0002007	Frontal bossing	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0002007	HP:0002007	Frontal bossing	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0002007	HP:0002007	Frontal bossing	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0002007	HP:0002007	Frontal bossing	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002007	HP:0002007	Frontal bossing	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent	30
HP:0002007	HP:0002007	Frontal bossing	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0002007	HP:0002007	Frontal bossing	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0002007	HP:0002007	Frontal bossing	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0002007	HP:0002007	Frontal bossing	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0002007	HP:0002007	Frontal bossing	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0002007	HP:0002007	Frontal bossing	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0002007	HP:0002007	Frontal bossing	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0002007	HP:0002007	Frontal bossing	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0002007	HP:0002007	Frontal bossing	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0002007	HP:0002007	Frontal bossing	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0002007	HP:0002007	Frontal bossing	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0002007	HP:0002007	Frontal bossing	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0002007	HP:0002007	Frontal bossing	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040282 - Frequent	270
HP:0002007	HP:0002007	Frontal bossing	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0002007	HP:0002007	Frontal bossing	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0002007	HP:0002007	Frontal bossing	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002007	HP:0002007	Frontal bossing	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0002007	HP:0002007	Frontal bossing	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0002007	HP:0002007	Frontal bossing	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0002007	HP:0002007	Frontal bossing	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0002007	HP:0002007	Frontal bossing	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0002007	HP:0002007	Frontal bossing	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.	108
HP:0002007	HP:0002007	Frontal bossing	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	5
HP:0002007	HP:0002007	Frontal bossing	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0002007	HP:0002007	Frontal bossing	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002007	HP:0002007	Frontal bossing	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002007	HP:0002007	Frontal bossing	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	200
HP:0002007	HP:0002007	Frontal bossing	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	88
HP:0002007	HP:0002007	Frontal bossing	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0002007	HP:0002007	Frontal bossing	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare	580
HP:0002007	HP:0002007	Frontal bossing	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0002007	HP:0002007	Frontal bossing	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0002007	HP:0002007	Frontal bossing	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0002007	HP:0002007	Frontal bossing	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0002007	HP:0002007	Frontal bossing	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002007	HP:0002007	Frontal bossing	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0002007	HP:0002007	Frontal bossing	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0002007	HP:0002007	Frontal bossing	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	25
HP:0002007	HP:0002007	Frontal bossing	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0002007	HP:0002007	Frontal bossing	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0002007	HP:0002007	Frontal bossing	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0002007	HP:0002007	Frontal bossing	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0002007	HP:0002007	Frontal bossing	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0002007	HP:0002007	Frontal bossing	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0002007	HP:0002007	Frontal bossing	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0002007	HP:0002007	Frontal bossing	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0002007	HP:0002007	Frontal bossing	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0002007	HP:0002007	Frontal bossing	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0002007	HP:0002007	Frontal bossing	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0002007	HP:0002007	Frontal bossing	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0002007	HP:0002007	Frontal bossing	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0002007	HP:0002007	Frontal bossing	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0002007	HP:0002007	Frontal bossing	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0002007	HP:0002007	Frontal bossing	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0002007	HP:0002007	Frontal bossing	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0002007	HP:0002007	Frontal bossing	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0002007	HP:0002007	Frontal bossing	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002007	HP:0002007	Frontal bossing	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002007	HP:0002007	Frontal bossing	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002007	HP:0002007	Frontal bossing	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0002007	HP:0002007	Frontal bossing	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0002007	HP:0002007	Frontal bossing	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0002007	HP:0002007	Frontal bossing	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0002007	HP:0002007	Frontal bossing	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002007	HP:0002007	Frontal bossing	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0002007	HP:0002007	Frontal bossing	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0002007	HP:0002007	Frontal bossing	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0002007	HP:0002007	Frontal bossing	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	.	3
HP:0002007	HP:0002007	Frontal bossing	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0002007	HP:0002007	Frontal bossing	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0002007	HP:0002007	Frontal bossing	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0002007	HP:0002007	Frontal bossing	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002007	HP:0002007	Frontal bossing	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002007	HP:0002007	Frontal bossing	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0002007	HP:0002007	Frontal bossing	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0002007	HP:0002007	Frontal bossing	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0002007	HP:0002007	Frontal bossing	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0002007	HP:0002007	Frontal bossing	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0002007	HP:0002007	Frontal bossing	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0002007	HP:0002007	Frontal bossing	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040283 - Occasional	1
HP:0002007	HP:0002007	Frontal bossing	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent	13
HP:0002007	HP:0002007	Frontal bossing	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0002007	HP:0002007	Frontal bossing	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0002007	HP:0002007	Frontal bossing	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0002007	HP:0002007	Frontal bossing	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0002007	HP:0002007	Frontal bossing	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0002007	HP:0002007	Frontal bossing	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0002007	HP:0002007	Frontal bossing	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0002007	HP:0002007	Frontal bossing	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0002007	HP:0002007	Frontal bossing	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0002007	HP:0002007	Frontal bossing	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	124
HP:0002007	HP:0002007	Frontal bossing	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0002007	HP:0002007	Frontal bossing	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional	125
HP:0002007	HP:0002007	Frontal bossing	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0002007	HP:0002007	Frontal bossing	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0002007	HP:0002007	Frontal bossing	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0002007	HP:0002007	Frontal bossing	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0002007	HP:0002007	Frontal bossing	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0002007	HP:0002007	Frontal bossing	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0002007	HP:0002007	Frontal bossing	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0002007	HP:0002007	Frontal bossing	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0002007	HP:0002007	Frontal bossing	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0002007	HP:0002007	Frontal bossing	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0002007	HP:0002007	Frontal bossing	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002007	HP:0002007	Frontal bossing	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0002007	HP:0002007	Frontal bossing	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002007	HP:0002007	Frontal bossing	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002007	HP:0002007	Frontal bossing	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0002007	HP:0002007	Frontal bossing	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0002007	HP:0002007	Frontal bossing	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0002007	HP:0002007	Frontal bossing	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0002007	HP:0002007	Frontal bossing	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0002007	HP:0002007	Frontal bossing	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0002007	HP:0002007	Frontal bossing	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0002007	HP:0002007	Frontal bossing	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0002007	HP:0002007	Frontal bossing	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0002007	HP:0002007	Frontal bossing	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent	68
HP:0002007	HP:0002007	Frontal bossing	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0002007	HP:0002007	Frontal bossing	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002007	HP:0002007	Frontal bossing	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0002007	HP:0002007	Frontal bossing	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0002007	HP:0002007	Frontal bossing	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0002007	HP:0002007	Frontal bossing	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0002007	HP:0002007	Frontal bossing	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040282 - Frequent	43
HP:0002007	HP:0002007	Frontal bossing	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0002007	HP:0002007	Frontal bossing	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0002007	HP:0002007	Frontal bossing	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0002007	HP:0002007	Frontal bossing	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0002007	HP:0002007	Frontal bossing	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0002007	HP:0002007	Frontal bossing	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0002007	HP:0002007	Frontal bossing	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002007	HP:0002007	Frontal bossing	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0002007	HP:0002007	Frontal bossing	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0002007	HP:0002007	Frontal bossing	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0002007	HP:0002007	Frontal bossing	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0002007	HP:0002007	Frontal bossing	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002007	HP:0002007	Frontal bossing	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0002007	HP:0002007	Frontal bossing	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0002007	HP:0002007	Frontal bossing	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0002007	HP:0002007	Frontal bossing	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0002007	HP:0002007	Frontal bossing	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0002007	HP:0002007	Frontal bossing	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0002007	HP:0002007	Frontal bossing	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.	201
HP:0002007	HP:0002007	Frontal bossing	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0002007	HP:0002007	Frontal bossing	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent	201
HP:0002007	HP:0002007	Frontal bossing	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0002007	HP:0002007	Frontal bossing	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0002007	HP:0002007	Frontal bossing	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0002007	HP:0002007	Frontal bossing	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0002007	HP:0002007	Frontal bossing	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	231
HP:0002007	HP:0002007	Frontal bossing	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002007	HP:0002007	Frontal bossing	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0002007	HP:0002007	Frontal bossing	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0002007	HP:0002007	Frontal bossing	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002007	HP:0002007	Frontal bossing	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0002007	HP:0002007	Frontal bossing	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0002007	HP:0002007	Frontal bossing	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0002007	HP:0002007	Frontal bossing	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0002007	HP:0002007	Frontal bossing	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0002007	HP:0002007	Frontal bossing	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002007	HP:0002007	Frontal bossing	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional	217
HP:0002007	HP:0002007	Frontal bossing	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0002007	HP:0002007	Frontal bossing	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0002007	HP:0002007	Frontal bossing	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0002007	HP:0002007	Frontal bossing	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0002007	HP:0002007	Frontal bossing	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040283 - Occasional	9
HP:0002007	HP:0002007	Frontal bossing	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0002007	HP:0002007	Frontal bossing	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0002007	HP:0002007	Frontal bossing	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0002007	HP:0002007	Frontal bossing	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0002007	HP:0002007	Frontal bossing	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002007	HP:0002007	Frontal bossing	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0002007	HP:0002007	Frontal bossing	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	HP:0040284 - Very rare	1129
HP:0002007	HP:0002007	Frontal bossing	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0002007	HP:0002007	Frontal bossing	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0002007	HP:0002007	Frontal bossing	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0002007	HP:0002007	Frontal bossing	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0002007	HP:0002007	Frontal bossing	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002007	HP:0002007	Frontal bossing	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0002007	HP:0002007	Frontal bossing	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0002007	HP:0002007	Frontal bossing	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0002007	HP:0002007	Frontal bossing	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0002007	HP:0002007	Frontal bossing	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0002007	HP:0002007	Frontal bossing	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002007	HP:0002007	Frontal bossing	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0002007	HP:0002007	Frontal bossing	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0002007	HP:0002007	Frontal bossing	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0002007	HP:0002007	Frontal bossing	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent	7
HP:0002007	HP:0002007	Frontal bossing	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002007	HP:0002007	Frontal bossing	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0002007	HP:0002007	Frontal bossing	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0002007	HP:0002007	Frontal bossing	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	665
HP:0002007	HP:0002007	Frontal bossing	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0002007	HP:0002007	Frontal bossing	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0002007	HP:0002007	Frontal bossing	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	40
HP:0002007	HP:0002007	Frontal bossing	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0002007	HP:0002007	Frontal bossing	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0002007	HP:0002007	Frontal bossing	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0002007	HP:0002007	Frontal bossing	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.	948
HP:0002007	HP:0002007	Frontal bossing	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	6
HP:0002007	HP:0002007	Frontal bossing	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0002007	HP:0002007	Frontal bossing	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0002007	HP:0002007	Frontal bossing	0	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome	HP:0040281 - Very frequent	34
HP:0002007	HP:0002007	Frontal bossing	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0002007	HP:0002007	Frontal bossing	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0002007	HP:0002007	Frontal bossing	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0002007	HP:0002007	Frontal bossing	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0002007	HP:0002007	Frontal bossing	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0002007	HP:0002007	Frontal bossing	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002007	HP:0002007	Frontal bossing	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0002007	HP:0002007	Frontal bossing	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0002007	HP:0002007	Frontal bossing	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0002007	HP:0002007	Frontal bossing	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0002007	HP:0002007	Frontal bossing	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0002007	HP:0002007	Frontal bossing	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0002007	HP:0002007	Frontal bossing	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0002007	HP:0002007	Frontal bossing	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0002007	HP:0002007	Frontal bossing	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002007	HP:0002007	Frontal bossing	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0002007	HP:0002007	Frontal bossing	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0002007	HP:0002007	Frontal bossing	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0002007	HP:0002007	Frontal bossing	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002007	HP:0002007	Frontal bossing	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0002007	HP:0002007	Frontal bossing	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0002007	HP:0002007	Frontal bossing	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	5
HP:0002007	HP:0002007	Frontal bossing	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0002007	HP:0002007	Frontal bossing	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0002007	HP:0002007	Frontal bossing	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040281 - Very frequent	143
HP:0002007	HP:0002007	Frontal bossing	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002007	HP:0002007	Frontal bossing	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0002007	HP:0002007	Frontal bossing	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040281 - Very frequent	2
HP:0002007	HP:0002007	Frontal bossing	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0002007	HP:0002007	Frontal bossing	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0002007	HP:0002007	Frontal bossing	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0002007	HP:0002007	Frontal bossing	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0002007	HP:0002007	Frontal bossing	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002007	HP:0002007	Frontal bossing	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0002007	HP:0002007	Frontal bossing	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002007	HP:0002007	Frontal bossing	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0002007	HP:0002007	Frontal bossing	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0002007	HP:0002007	Frontal bossing	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent	55
HP:0002007	HP:0002007	Frontal bossing	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0002007	HP:0002007	Frontal bossing	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002007	HP:0002007	Frontal bossing	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002007	HP:0002007	Frontal bossing	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0002007	HP:0002007	Frontal bossing	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0002007	HP:0002007	Frontal bossing	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0002007	HP:0002007	Frontal bossing	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0002007	HP:0002007	Frontal bossing	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.	2
HP:0002007	HP:0002007	Frontal bossing	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent	14
HP:0002007	HP:0002007	Frontal bossing	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002007	HP:0002007	Frontal bossing	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002007	HP:0002007	Frontal bossing	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent	26
HP:0002007	HP:0002007	Frontal bossing	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0002007	HP:0002007	Frontal bossing	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0002007	HP:0002007	Frontal bossing	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0002007	HP:0002007	Frontal bossing	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0002007	HP:0002007	Frontal bossing	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002007	HP:0002007	Frontal bossing	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0002007	HP:0002007	Frontal bossing	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0002007	HP:0002007	Frontal bossing	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0002007	HP:0002007	Frontal bossing	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0002007	HP:0002007	Frontal bossing	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0002007	HP:0002007	Frontal bossing	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	228
HP:0002007	HP:0002007	Frontal bossing	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	156
HP:0002007	HP:0002007	Frontal bossing	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0002007	HP:0002007	Frontal bossing	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0002007	HP:0002007	Frontal bossing	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0002007	HP:0002007	Frontal bossing	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	124
HP:0002007	HP:0002007	Frontal bossing	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0002007	HP:0002007	Frontal bossing	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002007	HP:0002007	Frontal bossing	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0002007	HP:0002007	Frontal bossing	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002007	HP:0002007	Frontal bossing	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0002007	HP:0002007	Frontal bossing	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0002007	HP:0002007	Frontal bossing	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent	55
HP:0002007	HP:0002007	Frontal bossing	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0002007	HP:0002007	Frontal bossing	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0002007	HP:0002007	Frontal bossing	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0002007	HP:0002007	Frontal bossing	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0002007	HP:0002007	Frontal bossing	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0002007	HP:0002007	Frontal bossing	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0002007	HP:0002007	Frontal bossing	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0002007	HP:0002007	Frontal bossing	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0002007	HP:0002007	Frontal bossing	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0002007	HP:0002007	Frontal bossing	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002007	HP:0002007	Frontal bossing	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002007	HP:0002007	Frontal bossing	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0002007	HP:0002007	Frontal bossing	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0002007	HP:0002007	Frontal bossing	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0002007	HP:0002007	Frontal bossing	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0002007	HP:0002007	Frontal bossing	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional	133
HP:0002007	HP:0002007	Frontal bossing	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0002007	HP:0002007	Frontal bossing	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171
HP:0002007	HP:0002007	Frontal bossing	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002007	HP:0002007	Frontal bossing	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0002007	HP:0002007	Frontal bossing	0	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	18
HP:0002007	HP:0002007	Frontal bossing	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0002007	HP:0002007	Frontal bossing	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002007	HP:0002007	Frontal bossing	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002007	HP:0002007	Frontal bossing	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0002007	HP:0002007	Frontal bossing	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0002007	HP:0002007	Frontal bossing	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002007	HP:0002007	Frontal bossing	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040283 - Occasional	104
HP:0002007	HP:0002007	Frontal bossing	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002007	HP:0002007	Frontal bossing	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0002007	HP:0002007	Frontal bossing	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0002007	HP:0002007	Frontal bossing	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0002007	HP:0002007	Frontal bossing	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136
HP:0002007	HP:0002007	Frontal bossing	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0002007	HP:0002007	Frontal bossing	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0002007	HP:0002007	Frontal bossing	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0002007	HP:0002007	Frontal bossing	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0002007	HP:0002007	Frontal bossing	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0002007	HP:0002007	Frontal bossing	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	14
HP:0002007	HP:0002007	Frontal bossing	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0002007	HP:0002007	Frontal bossing	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4