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:0000248	HP:0000248	Brachycephaly	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000248	HP:0000248	Brachycephaly	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0000248	HP:0000248	Brachycephaly	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000248	HP:0000248	Brachycephaly	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0000248	HP:0000248	Brachycephaly	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0000248	HP:0000248	Brachycephaly	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000248	HP:0000248	Brachycephaly	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0000248	HP:0000248	Brachycephaly	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000248	HP:0000248	Brachycephaly	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000248	HP:0000248	Brachycephaly	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000248	HP:0000248	Brachycephaly	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0000248	HP:0000248	Brachycephaly	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome	.	93
HP:0000248	HP:0000248	Brachycephaly	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000248	HP:0000248	Brachycephaly	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000248	HP:0000248	Brachycephaly	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0000248	HP:0000248	Brachycephaly	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0000248	HP:0000248	Brachycephaly	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0000248	HP:0000248	Brachycephaly	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000248	HP:0000248	Brachycephaly	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000248	HP:0000248	Brachycephaly	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000248	HP:0000248	Brachycephaly	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0000248	HP:0000248	Brachycephaly	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000248	HP:0000248	Brachycephaly	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000248	HP:0000248	Brachycephaly	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000248	HP:0000248	Brachycephaly	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0000248	HP:0000248	Brachycephaly	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0000248	HP:0000248	Brachycephaly	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:0000248	HP:0000248	Brachycephaly	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0000248	HP:0000248	Brachycephaly	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000248	HP:0000248	Brachycephaly	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000248	HP:0000248	Brachycephaly	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0000248	HP:0000248	Brachycephaly	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000248	HP:0000248	Brachycephaly	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000248	HP:0000248	Brachycephaly	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000248	HP:0000248	Brachycephaly	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0000248	HP:0000248	Brachycephaly	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	3
HP:0000248	HP:0000248	Brachycephaly	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000248	HP:0000248	Brachycephaly	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0000248	HP:0000248	Brachycephaly	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0000248	HP:0000248	Brachycephaly	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000248	HP:0000248	Brachycephaly	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000248	HP:0000248	Brachycephaly	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000248	HP:0000248	Brachycephaly	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000248	HP:0000248	Brachycephaly	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:0000248	HP:0000248	Brachycephaly	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000248	HP:0000248	Brachycephaly	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000248	HP:0000248	Brachycephaly	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0000248	HP:0000248	Brachycephaly	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0000248	HP:0000248	Brachycephaly	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0000248	HP:0000248	Brachycephaly	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000248	HP:0000248	Brachycephaly	0	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0000248	HP:0000248	Brachycephaly	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000248	HP:0000248	Brachycephaly	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0000248	HP:0000248	Brachycephaly	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0000248	HP:0000248	Brachycephaly	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000248	HP:0000248	Brachycephaly	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0000248	HP:0000248	Brachycephaly	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent	27
HP:0000248	HP:0000248	Brachycephaly	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000248	HP:0000248	Brachycephaly	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000248	HP:0000248	Brachycephaly	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0000248	HP:0000248	Brachycephaly	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0000248	HP:0000248	Brachycephaly	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0000248	HP:0000248	Brachycephaly	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000248	HP:0000248	Brachycephaly	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0000248	HP:0000248	Brachycephaly	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	102
HP:0000248	HP:0000248	Brachycephaly	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000248	HP:0000248	Brachycephaly	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0000248	HP:0000248	Brachycephaly	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0000248	HP:0000248	Brachycephaly	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0000248	HP:0000248	Brachycephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000248	HP:0000248	Brachycephaly	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0000248	HP:0000248	Brachycephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0000248	HP:0000248	Brachycephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040281 - Very frequent	145
HP:0000248	HP:0000248	Brachycephaly	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0000248	HP:0000248	Brachycephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0000248	HP:0000248	Brachycephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000248	HP:0000248	Brachycephaly	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0000248	HP:0000248	Brachycephaly	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0000248	HP:0000248	Brachycephaly	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent	184
HP:0000248	HP:0000248	Brachycephaly	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0000248	HP:0000248	Brachycephaly	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000248	HP:0000248	Brachycephaly	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000248	HP:0000248	Brachycephaly	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0000248	HP:0000248	Brachycephaly	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	10
HP:0000248	HP:0000248	Brachycephaly	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000248	HP:0000248	Brachycephaly	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000248	HP:0000248	Brachycephaly	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000248	HP:0000248	Brachycephaly	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000248	HP:0000248	Brachycephaly	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000248	HP:0000248	Brachycephaly	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000248	HP:0000248	Brachycephaly	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000248	HP:0000248	Brachycephaly	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0000248	HP:0000248	Brachycephaly	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000248	HP:0000248	Brachycephaly	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000248	HP:0000248	Brachycephaly	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000248	HP:0000248	Brachycephaly	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0000248	HP:0000248	Brachycephaly	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000248	HP:0000248	Brachycephaly	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0000248	HP:0000248	Brachycephaly	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000248	HP:0000248	Brachycephaly	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000248	HP:0000248	Brachycephaly	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000248	HP:0000248	Brachycephaly	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	345
HP:0000248	HP:0000248	Brachycephaly	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000248	HP:0000248	Brachycephaly	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0000248	HP:0000248	Brachycephaly	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0000248	HP:0000248	Brachycephaly	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000248	HP:0000248	Brachycephaly	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000248	HP:0000248	Brachycephaly	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	.	119
HP:0000248	HP:0000248	Brachycephaly	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0000248	HP:0000248	Brachycephaly	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0000248	HP:0000248	Brachycephaly	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000248	HP:0000248	Brachycephaly	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	1
HP:0000248	HP:0000248	Brachycephaly	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000248	HP:0000248	Brachycephaly	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0000248	HP:0000248	Brachycephaly	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0000248	HP:0000248	Brachycephaly	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0000248	HP:0000248	Brachycephaly	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0000248	HP:0000248	Brachycephaly	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040281 - Very frequent	125
HP:0000248	HP:0000248	Brachycephaly	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional	191
HP:0000248	HP:0000248	Brachycephaly	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000248	HP:0000248	Brachycephaly	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000248	HP:0000248	Brachycephaly	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	21
HP:0000248	HP:0000248	Brachycephaly	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0000248	HP:0000248	Brachycephaly	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0000248	HP:0000248	Brachycephaly	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000248	HP:0000248	Brachycephaly	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000248	HP:0000248	Brachycephaly	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0000248	HP:0000248	Brachycephaly	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000248	HP:0000248	Brachycephaly	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0000248	HP:0000248	Brachycephaly	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0000248	HP:0000248	Brachycephaly	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000248	HP:0000248	Brachycephaly	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000248	HP:0000248	Brachycephaly	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	2
HP:0000248	HP:0000248	Brachycephaly	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0000248	HP:0000248	Brachycephaly	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	64
HP:0000248	HP:0000248	Brachycephaly	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000248	HP:0000248	Brachycephaly	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000248	HP:0000248	Brachycephaly	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0000248	HP:0000248	Brachycephaly	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0000248	HP:0000248	Brachycephaly	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000248	HP:0000248	Brachycephaly	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0000248	HP:0000248	Brachycephaly	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0000248	HP:0000248	Brachycephaly	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0000248	HP:0000248	Brachycephaly	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0000248	HP:0000248	Brachycephaly	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0000248	HP:0000248	Brachycephaly	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0000248	HP:0000248	Brachycephaly	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000248	HP:0000248	Brachycephaly	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0000248	HP:0000248	Brachycephaly	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000248	HP:0000248	Brachycephaly	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000248	HP:0000248	Brachycephaly	0	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:0000248	HP:0000248	Brachycephaly	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000248	HP:0000248	Brachycephaly	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000248	HP:0000248	Brachycephaly	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000248	HP:0000248	Brachycephaly	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000248	HP:0000248	Brachycephaly	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0000248	HP:0000248	Brachycephaly	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000248	HP:0000248	Brachycephaly	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000248	HP:0000248	Brachycephaly	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000248	HP:0000248	Brachycephaly	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000248	HP:0000248	Brachycephaly	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000248	HP:0000248	Brachycephaly	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	2
HP:0000248	HP:0000248	Brachycephaly	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0000248	HP:0000248	Brachycephaly	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0000248	HP:0000248	Brachycephaly	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000248	HP:0000248	Brachycephaly	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000248	HP:0000248	Brachycephaly	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000248	HP:0000248	Brachycephaly	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent	12
HP:0000248	HP:0000248	Brachycephaly	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0000248	HP:0000248	Brachycephaly	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000248	HP:0000248	Brachycephaly	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000248	HP:0000248	Brachycephaly	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000248	HP:0000248	Brachycephaly	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional	103
HP:0000248	HP:0000248	Brachycephaly	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0000248	HP:0000248	Brachycephaly	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional	35
HP:0000248	HP:0000248	Brachycephaly	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000248	HP:0000248	Brachycephaly	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000248	HP:0000248	Brachycephaly	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0000248	HP:0000248	Brachycephaly	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0000248	HP:0000248	Brachycephaly	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000248	HP:0000248	Brachycephaly	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000248	HP:0000248	Brachycephaly	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000248	HP:0000248	Brachycephaly	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000248	HP:0000248	Brachycephaly	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000248	HP:0000248	Brachycephaly	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000248	HP:0000248	Brachycephaly	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent	28
HP:0000248	HP:0000248	Brachycephaly	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	148
HP:0000248	HP:0000248	Brachycephaly	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0000248	HP:0000248	Brachycephaly	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0000248	HP:0000248	Brachycephaly	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0000248	HP:0000248	Brachycephaly	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000248	HP:0000248	Brachycephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	665
HP:0000248	HP:0000248	Brachycephaly	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	40
HP:0000248	HP:0000248	Brachycephaly	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0000248	HP:0000248	Brachycephaly	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0000248	HP:0000248	Brachycephaly	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0000248	HP:0000248	Brachycephaly	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0000248	HP:0000248	Brachycephaly	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000248	HP:0000248	Brachycephaly	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000248	HP:0000248	Brachycephaly	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0000248	HP:0000248	Brachycephaly	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0000248	HP:0000248	Brachycephaly	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0000248	HP:0000248	Brachycephaly	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000248	HP:0000248	Brachycephaly	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0000248	HP:0000248	Brachycephaly	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0000248	HP:0000248	Brachycephaly	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000248	HP:0000248	Brachycephaly	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0000248	HP:0000248	Brachycephaly	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000248	HP:0000248	Brachycephaly	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0000248	HP:0000248	Brachycephaly	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000248	HP:0000248	Brachycephaly	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0000248	HP:0000248	Brachycephaly	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000248	HP:0000248	Brachycephaly	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0000248	HP:0000248	Brachycephaly	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	16
HP:0000248	HP:0000248	Brachycephaly	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	HP:0040283 - Occasional	37
HP:0000248	HP:0000248	Brachycephaly	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0000248	HP:0000248	Brachycephaly	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional	10
HP:0000248	HP:0000248	Brachycephaly	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0000248	HP:0000248	Brachycephaly	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000248	HP:0000248	Brachycephaly	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0000248	HP:0000248	Brachycephaly	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0000248	HP:0000248	Brachycephaly	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000248	HP:0000248	Brachycephaly	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000248	HP:0000248	Brachycephaly	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000248	HP:0000248	Brachycephaly	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	150
HP:0000248	HP:0000248	Brachycephaly	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000248	HP:0000248	Brachycephaly	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0000248	HP:0000248	Brachycephaly	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000248	HP:0000248	Brachycephaly	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000248	HP:0000248	Brachycephaly	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0000248	HP:0000248	Brachycephaly	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000248	HP:0000248	Brachycephaly	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0000248	HP:0000248	Brachycephaly	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000248	HP:0000248	Brachycephaly	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000248	HP:0000248	Brachycephaly	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000248	HP:0000248	Brachycephaly	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000248	HP:0000248	Brachycephaly	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0000248	HP:0000248	Brachycephaly	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0000248	HP:0000248	Brachycephaly	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0000248	HP:0000248	Brachycephaly	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	4
HP:0000248	HP:0000248	Brachycephaly	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000248	HP:0000248	Brachycephaly	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0000248	HP:0000248	Brachycephaly	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0000248	HP:0000248	Brachycephaly	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0000248	HP:0000248	Brachycephaly	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	124
HP:0000248	HP:0000248	Brachycephaly	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0000248	HP:0000248	Brachycephaly	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000248	HP:0000248	Brachycephaly	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000248	HP:0000248	Brachycephaly	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000248	HP:0000248	Brachycephaly	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000248	HP:0000248	Brachycephaly	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000248	HP:0000248	Brachycephaly	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0000248	HP:0000248	Brachycephaly	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000248	HP:0000248	Brachycephaly	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040281 - Very frequent	28
HP:0000248	HP:0000248	Brachycephaly	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000248	HP:0000248	Brachycephaly	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0000248	HP:0000248	Brachycephaly	0	TDP2 CL E G H	51567	17768	ORPHA:404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	HP:0040283 - Occasional	3
HP:0000248	HP:0000248	Brachycephaly	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0000248	HP:0000248	Brachycephaly	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0000248	HP:0000248	Brachycephaly	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000248	HP:0000248	Brachycephaly	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000248	HP:0000248	Brachycephaly	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent	6
HP:0000248	HP:0000248	Brachycephaly	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000248	HP:0000248	Brachycephaly	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0000248	HP:0000248	Brachycephaly	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0000248	HP:0000248	Brachycephaly	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0000248	HP:0000248	Brachycephaly	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0000248	HP:0000248	Brachycephaly	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000248	HP:0000248	Brachycephaly	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000248	HP:0000248	Brachycephaly	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.	41
HP:0000248	HP:0000248	Brachycephaly	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000248	HP:0000248	Brachycephaly	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040281 - Very frequent	18
HP:0000248	HP:0000248	Brachycephaly	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000248	HP:0000248	Brachycephaly	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000248	HP:0000248	Brachycephaly	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000248	HP:0000248	Brachycephaly	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0000248	HP:0000248	Brachycephaly	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0000248	HP:0000248	Brachycephaly	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent	13
HP:0000248	HP:0000248	Brachycephaly	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000248	HP:0000248	Brachycephaly	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000248	HP:0000248	Brachycephaly	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0000248	HP:0000248	Brachycephaly	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000248	HP:0000248	Brachycephaly	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000248	HP:0000248	Brachycephaly	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0000248	HP:0000248	Brachycephaly	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0000248	HP:0000248	Brachycephaly	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000248	HP:0000248	Brachycephaly	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0000248	HP:0000248	Brachycephaly	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000248	HP:0000248	Brachycephaly	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000248	HP:0000248	Brachycephaly	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10
HP:0000248	HP:0000248	Brachycephaly	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	.	5
HP:0000248	HP:0000248	Brachycephaly	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040281 - Very frequent	5
HP:0000248	HP:0000248	Brachycephaly	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000248	HP:0000248	Brachycephaly	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000248	HP:0000248	Brachycephaly	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0000248	HP:0000248	Brachycephaly	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0000248	HP:0000244	Brachyturricephaly	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000248	HP:0000244	Brachyturricephaly	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000248	HP:0000244	Brachyturricephaly	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000248	HP:0004487	Acrobrachycephaly	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0000248	HP:0004487	Acrobrachycephaly	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000248	HP:0000244	Brachyturricephaly	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0000248	HP:0000244	Brachyturricephaly	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000248	HP:0000244	Brachyturricephaly	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0000248	HP:0000244	Brachyturricephaly	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000248	HP:0000244	Brachyturricephaly	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0000248	HP:0000244	Brachyturricephaly	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000248	HP:0000244	Brachyturricephaly	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000248	HP:0000244	Brachyturricephaly	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0000248	HP:0000244	Brachyturricephaly	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000248	HP:0000244	Brachyturricephaly	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0000248	HP:0000244	Brachyturricephaly	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1