Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the orbital region (HP:0000315)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormality of globe location (HP:0100886)

..Starting node
..Proptosis (HP:0000520)

Term ID:

520

Name:

Proptosis

Synonym:

Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi

Definition:

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Comments:

Reference:

HP:0000520

Genes and Diseases:

Child Nodes:

........

Shallow orbits (HP:0000586)

Sister Nodes:

Cyclopia (HP:0009914)

Deeply set eye (HP:0000490)

Hypertelorism (HP:0000316)

Hypotelorism (HP:0000601)

Vertical orbital dystopia (HP:0030867)

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:0000520	HP:0000520	Proptosis	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B	.	130
HP:0000520	HP:0000520	Proptosis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0000520	HP:0000520	Proptosis	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0000520	HP:0000520	Proptosis	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000520	HP:0000520	Proptosis	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0000520	HP:0000520	Proptosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000520	HP:0000520	Proptosis	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000520	HP:0000520	Proptosis	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000520	HP:0000520	Proptosis	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0000520	HP:0000520	Proptosis	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0000520	HP:0000520	Proptosis	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0000520	HP:0000520	Proptosis	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0000520	HP:0000520	Proptosis	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000520	HP:0000520	Proptosis	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0000520	HP:0000520	Proptosis	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000520	HP:0000520	Proptosis	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0000520	HP:0000520	Proptosis	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0000520	HP:0000520	Proptosis	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0000520	HP:0000520	Proptosis	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0000520	HP:0000520	Proptosis	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0000520	HP:0000520	Proptosis	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000520	HP:0000520	Proptosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0000520	HP:0000520	Proptosis	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0000520	HP:0000520	Proptosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	38
HP:0000520	HP:0000520	Proptosis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0000520	HP:0000520	Proptosis	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:0000520	HP:0000520	Proptosis	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000520	HP:0000520	Proptosis	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0000520	HP:0000520	Proptosis	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0000520	HP:0000520	Proptosis	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0000520	HP:0000520	Proptosis	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0000520	HP:0000520	Proptosis	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000520	HP:0000520	Proptosis	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000520	HP:0000520	Proptosis	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000520	HP:0000520	Proptosis	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000520	HP:0000520	Proptosis	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000520	HP:0000520	Proptosis	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0000520	HP:0000520	Proptosis	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0000520	HP:0000520	Proptosis	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000520	HP:0000520	Proptosis	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000520	HP:0000520	Proptosis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000520	HP:0000520	Proptosis	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000520	HP:0000520	Proptosis	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000520	HP:0000520	Proptosis	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	HP:0040283 - Occasional	181
HP:0000520	HP:0000520	Proptosis	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000520	HP:0000520	Proptosis	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.	200
HP:0000520	HP:0000520	Proptosis	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:0000520	HP:0000520	Proptosis	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0000520	HP:0000520	Proptosis	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0000520	HP:0000520	Proptosis	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0000520	HP:0000520	Proptosis	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0000520	HP:0000520	Proptosis	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0000520	HP:0000520	Proptosis	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000520	HP:0000520	Proptosis	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:0000520	HP:0000520	Proptosis	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	215
HP:0000520	HP:0000520	Proptosis	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000520	HP:0000520	Proptosis	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0000520	HP:0000520	Proptosis	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	222
HP:0000520	HP:0000520	Proptosis	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0000520	HP:0000520	Proptosis	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0000520	HP:0000520	Proptosis	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional	373
HP:0000520	HP:0000520	Proptosis	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0000520	HP:0000520	Proptosis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000520	HP:0000520	Proptosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000520	HP:0000520	Proptosis	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent	284
HP:0000520	HP:0000520	Proptosis	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent	749
HP:0000520	HP:0000520	Proptosis	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0000520	HP:0000520	Proptosis	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0000520	HP:0000520	Proptosis	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000520	HP:0000520	Proptosis	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000520	HP:0000520	Proptosis	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0000520	HP:0000520	Proptosis	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0000520	HP:0000520	Proptosis	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0000520	HP:0000520	Proptosis	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000520	HP:0000520	Proptosis	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000520	HP:0000520	Proptosis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0000520	HP:0000520	Proptosis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040282 - Frequent	39
HP:0000520	HP:0000520	Proptosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0000520	HP:0000520	Proptosis	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000520	HP:0000520	Proptosis	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000520	HP:0000520	Proptosis	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000520	HP:0000520	Proptosis	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000520	HP:0000520	Proptosis	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000520	HP:0000520	Proptosis	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000520	HP:0000520	Proptosis	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000520	HP:0000520	Proptosis	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000520	HP:0000520	Proptosis	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0000520	HP:0000520	Proptosis	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000520	HP:0000520	Proptosis	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0000520	HP:0000520	Proptosis	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000520	HP:0000520	Proptosis	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000520	HP:0000520	Proptosis	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0000520	HP:0000520	Proptosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0000520	HP:0000520	Proptosis	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0000520	HP:0000520	Proptosis	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0000520	HP:0000520	Proptosis	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000520	HP:0000520	Proptosis	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	3
HP:0000520	HP:0000520	Proptosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000520	HP:0000520	Proptosis	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent	35
HP:0000520	HP:0000520	Proptosis	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000520	HP:0000520	Proptosis	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000520	HP:0000520	Proptosis	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000520	HP:0000520	Proptosis	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000520	HP:0000520	Proptosis	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000520	HP:0000520	Proptosis	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000520	HP:0000520	Proptosis	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000520	HP:0000520	Proptosis	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000520	HP:0000520	Proptosis	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000520	HP:0000520	Proptosis	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000520	HP:0000520	Proptosis	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000520	HP:0000520	Proptosis	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000520	HP:0000520	Proptosis	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0000520	HP:0000520	Proptosis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000520	HP:0000520	Proptosis	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3	HP:0040284 - Very rare	75
HP:0000520	HP:0000520	Proptosis	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000520	HP:0000520	Proptosis	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0000520	HP:0000520	Proptosis	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	172
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0000520	HP:0000520	Proptosis	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000520	HP:0000520	Proptosis	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0000520	HP:0000520	Proptosis	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0000520	HP:0000520	Proptosis	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	145
HP:0000520	HP:0000520	Proptosis	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0000520	HP:0000520	Proptosis	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0000520	HP:0000520	Proptosis	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0000520	HP:0000520	Proptosis	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent	145
HP:0000520	HP:0000520	Proptosis	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000520	HP:0000520	Proptosis	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000520	HP:0000520	Proptosis	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000520	HP:0000520	Proptosis	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0000520	HP:0000520	Proptosis	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000520	HP:0000520	Proptosis	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent	493
HP:0000520	HP:0000520	Proptosis	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0000520	HP:0000520	Proptosis	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0000520	HP:0000520	Proptosis	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0000520	HP:0000520	Proptosis	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0000520	HP:0000520	Proptosis	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000520	HP:0000520	Proptosis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000520	HP:0000520	Proptosis	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0000520	HP:0000520	Proptosis	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000520	HP:0000520	Proptosis	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.	87
HP:0000520	HP:0000520	Proptosis	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0000520	HP:0000520	Proptosis	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0000520	HP:0000520	Proptosis	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0000520	HP:0000520	Proptosis	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.	37
HP:0000520	HP:0000520	Proptosis	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0000520	HP:0000520	Proptosis	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0000520	HP:0000520	Proptosis	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0000520	HP:0000520	Proptosis	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0000520	HP:0000520	Proptosis	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000520	HP:0000520	Proptosis	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000520	HP:0000520	Proptosis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0000520	HP:0000520	Proptosis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000520	HP:0000520	Proptosis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0000520	HP:0000520	Proptosis	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0000520	HP:0000520	Proptosis	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0000520	HP:0000520	Proptosis	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000520	HP:0000520	Proptosis	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000520	HP:0000520	Proptosis	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly	.	2
HP:0000520	HP:0000520	Proptosis	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000520	HP:0000520	Proptosis	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000520	HP:0000520	Proptosis	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000520	HP:0000520	Proptosis	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000520	HP:0000520	Proptosis	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000520	HP:0000520	Proptosis	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0000520	HP:0000520	Proptosis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000520	HP:0000520	Proptosis	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent	3
HP:0000520	HP:0000520	Proptosis	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.	257
HP:0000520	HP:0000520	Proptosis	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0000520	HP:0000520	Proptosis	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000520	HP:0000520	Proptosis	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0000520	HP:0000520	Proptosis	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000520	HP:0000520	Proptosis	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000520	HP:0000520	Proptosis	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000520	HP:0000520	Proptosis	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0000520	HP:0000520	Proptosis	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000520	HP:0000520	Proptosis	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0000520	HP:0000520	Proptosis	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0000520	HP:0000520	Proptosis	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0000520	HP:0000520	Proptosis	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000520	HP:0000520	Proptosis	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000520	HP:0000520	Proptosis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0000520	HP:0000520	Proptosis	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000520	HP:0000520	Proptosis	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent	645
HP:0000520	HP:0000520	Proptosis	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0000520	HP:0000520	Proptosis	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0000520	HP:0000520	Proptosis	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000520	HP:0000520	Proptosis	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0000520	HP:0000520	Proptosis	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000520	HP:0000520	Proptosis	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000520	HP:0000520	Proptosis	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000520	HP:0000520	Proptosis	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000520	HP:0000520	Proptosis	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0000520	HP:0000520	Proptosis	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0000520	HP:0000520	Proptosis	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0000520	HP:0000520	Proptosis	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0000520	HP:0000520	Proptosis	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0000520	HP:0000520	Proptosis	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000520	HP:0000520	Proptosis	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	183
HP:0000520	HP:0000520	Proptosis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000520	HP:0000520	Proptosis	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent
HP:0000520	HP:0000520	Proptosis	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0000520	HP:0000520	Proptosis	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0000520	HP:0000520	Proptosis	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000520	HP:0000520	Proptosis	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0000520	HP:0000520	Proptosis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000520	HP:0000520	Proptosis	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0000520	HP:0000520	Proptosis	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0000520	HP:0000520	Proptosis	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000520	HP:0000520	Proptosis	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0000520	HP:0000520	Proptosis	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0000520	HP:0000520	Proptosis	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000520	HP:0000520	Proptosis	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0000520	HP:0000520	Proptosis	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000520	HP:0000520	Proptosis	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0000520	HP:0000520	Proptosis	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.	90
HP:0000520	HP:0000520	Proptosis	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0000520	HP:0000520	Proptosis	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0000520	HP:0000520	Proptosis	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0000520	HP:0000520	Proptosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0000520	HP:0000520	Proptosis	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000520	HP:0000520	Proptosis	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0000520	HP:0000520	Proptosis	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000520	HP:0000520	Proptosis	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0000520	HP:0000520	Proptosis	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000520	HP:0000520	Proptosis	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0000520	HP:0000520	Proptosis	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000520	HP:0000520	Proptosis	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	2
HP:0000520	HP:0000520	Proptosis	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0000520	HP:0000520	Proptosis	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000520	HP:0000520	Proptosis	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000520	HP:0000520	Proptosis	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000520	HP:0000520	Proptosis	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0000520	HP:0000520	Proptosis	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000520	HP:0000520	Proptosis	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0000520	HP:0000520	Proptosis	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional	66
HP:0000520	HP:0000520	Proptosis	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0000520	HP:0000520	Proptosis	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000520	HP:0000520	Proptosis	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000520	HP:0000520	Proptosis	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0000520	HP:0000520	Proptosis	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0000520	HP:0000520	Proptosis	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000520	HP:0000520	Proptosis	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000520	HP:0000520	Proptosis	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000520	HP:0000520	Proptosis	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	HP:0040283 - Occasional	11
HP:0000520	HP:0000520	Proptosis	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0000520	HP:0000520	Proptosis	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000520	HP:0000520	Proptosis	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0000520	HP:0000520	Proptosis	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000520	HP:0000520	Proptosis	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000520	HP:0000520	Proptosis	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000520	HP:0000520	Proptosis	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000520	HP:0000520	Proptosis	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0000520	HP:0000520	Proptosis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000520	HP:0000520	Proptosis	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0000520	HP:0000520	Proptosis	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0000520	HP:0000520	Proptosis	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000520	HP:0000520	Proptosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000520	HP:0000520	Proptosis	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0000520	HP:0000520	Proptosis	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0000520	HP:0000520	Proptosis	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000520	HP:0000520	Proptosis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0000520	HP:0000520	Proptosis	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0000520	HP:0000520	Proptosis	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000520	HP:0000520	Proptosis	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000520	HP:0000520	Proptosis	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000520	HP:0000520	Proptosis	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000520	HP:0000520	Proptosis	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0000520	HP:0000520	Proptosis	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000520	HP:0000520	Proptosis	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000520	HP:0000520	Proptosis	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000520	HP:0000520	Proptosis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000520	HP:0000520	Proptosis	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0000520	HP:0000520	Proptosis	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000520	HP:0000520	Proptosis	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000520	HP:0000520	Proptosis	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000520	HP:0000520	Proptosis	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:0000520	HP:0000520	Proptosis	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000520	HP:0000520	Proptosis	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	5
HP:0000520	HP:0000520	Proptosis	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0000520	HP:0000520	Proptosis	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0000520	HP:0000520	Proptosis	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000520	HP:0000520	Proptosis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000520	HP:0000520	Proptosis	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional	177
HP:0000520	HP:0000520	Proptosis	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism	.	177
HP:0000520	HP:0000520	Proptosis	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000520	HP:0000520	Proptosis	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0000520	HP:0000520	Proptosis	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0000520	HP:0000520	Proptosis	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000520	HP:0000520	Proptosis	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000520	HP:0000520	Proptosis	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000520	HP:0000520	Proptosis	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0000520	HP:0000520	Proptosis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000520	HP:0000520	Proptosis	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000520	HP:0000520	Proptosis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0000520	HP:0000520	Proptosis	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000520	HP:0000520	Proptosis	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	24
HP:0000520	HP:0000520	Proptosis	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0000520	HP:0000520	Proptosis	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000520	HP:0000520	Proptosis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000520	HP:0000520	Proptosis	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0000520	HP:0000520	Proptosis	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0000520	HP:0000520	Proptosis	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0000520	HP:0000520	Proptosis	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000520	HP:0000520	Proptosis	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000520	HP:0000520	Proptosis	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000520	HP:0000520	Proptosis	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000520	HP:0000520	Proptosis	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0000520	HP:0000520	Proptosis	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0000520	HP:0000520	Proptosis	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0000520	HP:0000520	Proptosis	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000520	HP:0000520	Proptosis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000520	HP:0000520	Proptosis	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000520	HP:0000520	Proptosis	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0000520	HP:0000520	Proptosis	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000520	HP:0000520	Proptosis	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0000520	HP:0000520	Proptosis	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.	32
HP:0000520	HP:0000520	Proptosis	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0000520	HP:0000520	Proptosis	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	28
HP:0000520	HP:0000520	Proptosis	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0000520	HP:0000520	Proptosis	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0000520	HP:0000520	Proptosis	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0000520	HP:0000520	Proptosis	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0000520	HP:0000520	Proptosis	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000520	HP:0000520	Proptosis	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0000520	HP:0000520	Proptosis	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0000520	HP:0000520	Proptosis	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.	161
HP:0000520	HP:0000520	Proptosis	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000520	HP:0000520	Proptosis	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0000520	HP:0000520	Proptosis	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0000520	HP:0000520	Proptosis	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040283 - Occasional	97
HP:0000520	HP:0000520	Proptosis	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040284 - Very rare	97
HP:0000520	HP:0000520	Proptosis	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	18
HP:0000520	HP:0000520	Proptosis	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome		18
HP:0000520	HP:0000520	Proptosis	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000520	HP:0000520	Proptosis	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000520	HP:0000520	Proptosis	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000520	HP:0000520	Proptosis	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	2
HP:0000520	HP:0000520	Proptosis	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000520	HP:0000520	Proptosis	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0000520	HP:0000520	Proptosis	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0000520	HP:0000520	Proptosis	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000520	HP:0000520	Proptosis	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000520	HP:0000520	Proptosis	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0000520	HP:0000520	Proptosis	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0000520	HP:0000520	Proptosis	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional	14
HP:0000520	HP:0000520	Proptosis	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.	31
HP:0000520	HP:0000520	Proptosis	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0000520	HP:0000520	Proptosis	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	5
HP:0000520	HP:0000520	Proptosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0000520	HP:0000520	Proptosis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000520	HP:0000520	Proptosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0000520	HP:0000520	Proptosis	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000520	HP:0000586	Shallow orbits	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0000520	HP:0000586	Shallow orbits	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000520	HP:0000586	Shallow orbits	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000520	HP:0000586	Shallow orbits	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000520	HP:0000586	Shallow orbits	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0000520	HP:0000586	Shallow orbits	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000520	HP:0000586	Shallow orbits	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000520	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000520	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000520	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000520	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000520	HP:0000586	Shallow orbits	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0000520	HP:0000586	Shallow orbits	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0000520	HP:0000586	Shallow orbits	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0000520	HP:0000586	Shallow orbits	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0000520	HP:0000586	Shallow orbits	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0000520	HP:0000586	Shallow orbits	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000520	HP:0000586	Shallow orbits	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000520	HP:0000586	Shallow orbits	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000520	HP:0000586	Shallow orbits	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0000520	HP:0000586	Shallow orbits	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0000520	HP:0000586	Shallow orbits	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000520	HP:0000586	Shallow orbits	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0000520	HP:0000586	Shallow orbits	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000520	HP:0000586	Shallow orbits	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000520	HP:0000586	Shallow orbits	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0000520	HP:0000586	Shallow orbits	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000520	HP:0000586	Shallow orbits	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000520	HP:0000586	Shallow orbits	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000520	HP:0000586	Shallow orbits	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0000520	HP:0000586	Shallow orbits	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000520	HP:0000586	Shallow orbits	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000520	HP:0000586	Shallow orbits	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0000520	HP:0000586	Shallow orbits	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000520	HP:0000586	Shallow orbits	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000520	HP:0000586	Shallow orbits	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0000520	HP:0000586	Shallow orbits	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000520	HP:0000586	Shallow orbits	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (259) :ABCA12 ADAMTS10 AFF4 AKT1 ALG9 ALPL AP3B2 APC ASPM ASXL1 ASXL2 ATXN3 AUTS2 B3GALT6 B3GAT3 B4GALT7 BANF1 BAP1 BGN BPNT2 BRAF BRCA1 BRCA2 BRIP1 CACNA1C CANT1 CBL CDC45 CDH11 CDK5RAP2 CDKN1C CDON CHST3 CITED2 CKAP2L CLP1 COG4 COL11A1 COL11A2 COL1A1 COL2A1 COL3A1 CPLX1 CREBBP CRIPT CRTAP CSGALNACT1 CTBP1 CTLA4 CTSK CYP27A1 DDR2 DHCR7 DPYSL5 DVL1 DVL3 DYNC1I2 EFEMP2 ELMO2 EP300 ERCC4 ERF ESCO2 EXOC6B EXTL3 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FLNA FLNB FLT4 FN1 FOCAD FOXC1 FZD2 GATA4 GATA5 GATA6 GDF1 GJA5 GNPTAB GZF1 H19-ICR HERC1 HLA-DPA1 HLA-DPB1 HNRNPK HSPG2 HYMAI IFT81 IGF2 IL11RA INPPL1 INSR IPO8 IRF4 ITCH JAG1 KAT6A KCNJ6 KCNQ1 KCNQ1OT1 KDR KRAS LEMD2 LETM1 LMNA LRP2 LRP4 LTBP1 LZTR1 MAD2L2 MAF MAFB MAN2B1 MITF MMP2 MRAS MTHFR MTX2 MUSK MYD88 MYOD1 NAA10 NBAS NDE1 NELFA NF1 NF2 NFIX NIPBL NKX2-5 NKX2-6 NLRP3 NOTCH3 NRAS NSD2 NXN OSTM1 P3H1 P4HB PALB2 PARS2 PCLO PDGFB PDGFRB PEPD PHGDH PIGB PIGG PIK3CA PKDCC PLAGL1 PLCB3 PLK4 PLOD3 POLA1 POLD1 POLR3A POLR3GL POR PPP2CA PRTN3 PRUNE1 PSAT1 PSMB8 PTEN PTH1R PTPN11 PTPN22 RAC3 RAD51 RAD51C RAF1 RASA2 RECQL4 RFWD3 RIT1 RNU4ATAC ROR2 RRAS RRAS2 RSPRY1 RTTN SEC24D SERPINH1 SETBP1 SH3BP2 SH3PXD2B SHH SHPK SIN3A SIX3 SKI SKIC3 SLC25A24 SLC29A3 SLC39A13 SLC39A14 SLX4 SMAD3 SMARCB1 SMARCE1 SMO SMS SNRPN SOS1 SOS2 SOST SOX9 SPECC1L SPRED2 SPTBN1 STAG2 SUFU TAF1 TBC1D24 TBX1 TCF12 TCTN3 TERT TGFB1 TGFB3 TGFBR1 TGFBR2 THRB TMEM53 TNFRSF11A TRAF7 TSHR TWIST1 UBE2T VAC14 VANGL2 WASF1 WDR4 WNT5A XRCC2 XYLT1 ZFPM2 ZIC1 ZMPSTE24 ZNF699

Diseases (256) :OMIM:242500 OMIM:277600 OMIM:616368 ORPHA:444077 ORPHA:2495 ORPHA:744 ORPHA:79328 OMIM:263210 OMIM:241510 OMIM:617276 ORPHA:3258 OMIM:608716 OMIM:605039 ORPHA:97297 OMIM:617190 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:352490 OMIM:615834 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:614008 OMIM:300989 OMIM:614078 OMIM:115150 ORPHA:84 OMIM:620029 OMIM:251450 ORPHA:1425 ORPHA:648 OMIM:617063 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:604804 OMIM:130650 OMIM:614226 ORPHA:3303 OMIM:272440 ORPHA:411493 OMIM:615803 ORPHA:85172 OMIM:618150 ORPHA:440354 ORPHA:2021 OMIM:228520 ORPHA:560 OMIM:215150 ORPHA:1427 ORPHA:1310 ORPHA:485 OMIM:156550 ORPHA:93315 ORPHA:90653 ORPHA:286 ORPHA:352582 ORPHA:280 OMIM:194190 OMIM:180849 OMIM:615789 OMIM:610682 ORPHA:900 ORPHA:763 ORPHA:909 OMIM:271665 ORPHA:818 OMIM:619435 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:618492 OMIM:614437 OMIM:606893 OMIM:617180 OMIM:600775 ORPHA:207 ORPHA:3103 OMIM:268300 ORPHA:508533 ORPHA:1832 OMIM:259775 OMIM:616914 ORPHA:2462 OMIM:608328 OMIM:612961 OMIM:166250 OMIM:101600 ORPHA:93258 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123790 OMIM:123500 ORPHA:1555 ORPHA:1540 ORPHA:93259 ORPHA:93260 OMIM:101400 OMIM:612247 ORPHA:93262 ORPHA:35099 OMIM:602849 ORPHA:53271 ORPHA:1860 ORPHA:93274 OMIM:216340 ORPHA:3472 ORPHA:370348 OMIM:309350 ORPHA:2484 ORPHA:1190 OMIM:108720 OMIM:150250 OMIM:619991 OMIM:602482 OMIM:187500 ORPHA:576 OMIM:617662 OMIM:617011 ORPHA:457359 ORPHA:352665 ORPHA:453504 ORPHA:1865 ORPHA:96191 OMIM:617895 OMIM:614188 OMIM:258480 OMIM:246200 OMIM:619472 ORPHA:3452 OMIM:613385 ORPHA:228426 OMIM:616268 OMIM:614098 ORPHA:435628 OMIM:600268 ORPHA:3339 OMIM:619322 ORPHA:740 OMIM:248370 ORPHA:90153 OMIM:619793 ORPHA:2143 OMIM:222448 OMIM:619451 ORPHA:1272 ORPHA:2774 OMIM:166300 ORPHA:309282 OMIM:617306 OMIM:259600 ORPHA:563612 OMIM:619127 OMIM:208150 ORPHA:33226 OMIM:618975 ORPHA:276432 OMIM:300855 OMIM:614800 OMIM:605013 ORPHA:97685 OMIM:602535 ORPHA:561 OMIM:122470 ORPHA:1451 OMIM:607115 ORPHA:2789 ORPHA:1507 OMIM:618529 OMIM:259720 OMIM:610915 ORPHA:2050 OMIM:112240 OMIM:618437 OMIM:608027 OMIM:616592 OMIM:601812 ORPHA:742 OMIM:170100 OMIM:256520 OMIM:618580 OMIM:618821 OMIM:618961 OMIM:616171 OMIM:612394 OMIM:301030 OMIM:615381 OMIM:264090 OMIM:619234 OMIM:201750 OMIM:618354 OMIM:617481 OMIM:616038 OMIM:256040 ORPHA:50945 OMIM:156400 OMIM:618577 ORPHA:1225 ORPHA:2636 OMIM:210710 OMIM:268310 ORPHA:457395 ORPHA:468631 OMIM:616294 OMIM:613848 OMIM:269150 ORPHA:798 ORPHA:184 OMIM:118400 OMIM:249420 OMIM:142945 ORPHA:440713 OMIM:613406 OMIM:157170 OMIM:182212 OMIM:222470 OMIM:612289 ORPHA:168569 OMIM:602782 ORPHA:157965 OMIM:144755 OMIM:613795 ORPHA:3063 ORPHA:177907 OMIM:269500 ORPHA:140 ORPHA:1519 OMIM:619475 OMIM:301022 OMIM:300966 ORPHA:2753 OMIM:131300 ORPHA:1328 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:274300 OMIM:619727 OMIM:612301 ORPHA:99819 ORPHA:424 OMIM:180750 OMIM:618707 OMIM:618346 OMIM:615777 ORPHA:370930 OMIM:608612 ORPHA:90154 OMIM:619488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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