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:0000883	HP:0000883	Thin ribs	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0000883	HP:0000883	Thin ribs	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000883	HP:0000883	Thin ribs	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0000883	HP:0000883	Thin ribs	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0000883	HP:0000883	Thin ribs	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0000883	HP:0000883	Thin ribs	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0000883	HP:0000883	Thin ribs	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0000883	HP:0000883	Thin ribs	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0000883	HP:0000883	Thin ribs	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000883	HP:0000883	Thin ribs	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0000883	HP:0000883	Thin ribs	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0000883	HP:0000883	Thin ribs	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0000883	HP:0000883	Thin ribs	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0000883	HP:0000883	Thin ribs	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0000883	HP:0000883	Thin ribs	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0000883	HP:0000883	Thin ribs	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0000883	HP:0000883	Thin ribs	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0000883	HP:0000883	Thin ribs	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0000883	HP:0000883	Thin ribs	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0000883	HP:0000883	Thin ribs	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0000883	HP:0000883	Thin ribs	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040282 - Frequent	2
HP:0000883	HP:0000883	Thin ribs	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0000883	HP:0000883	Thin ribs	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0000883	HP:0000883	Thin ribs	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000883	HP:0000883	Thin ribs	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0000883	HP:0000883	Thin ribs	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0000883	HP:0000883	Thin ribs	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0000883	HP:0000883	Thin ribs	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional	5
HP:0000883	HP:0000883	Thin ribs	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional	185
HP:0000883	HP:0000883	Thin ribs	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0000883	HP:0000883	Thin ribs	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000883	HP:0000883	Thin ribs	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0000883	HP:0000883	Thin ribs	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0000883	HP:0000883	Thin ribs	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0000883	HP:0000883	Thin ribs	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2	.	143
HP:0000883	HP:0000883	Thin ribs	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0000883	HP:0000883	Thin ribs	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000883	HP:0000883	Thin ribs	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000883	HP:0000883	Thin ribs	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0000883	HP:0000883	Thin ribs	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000883	HP:0000883	Thin ribs	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.	2
HP:0000883	HP:0000883	Thin ribs	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	.	113
HP:0000883	HP:0000883	Thin ribs	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0000883	HP:0000883	Thin ribs	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000883	HP:0000883	Thin ribs	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0000883	HP:0000883	Thin ribs	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0000883	HP:0000883	Thin ribs	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000883	HP:0000883	Thin ribs	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000883	HP:0000883	Thin ribs	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0000883	HP:0000883	Thin ribs	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0000883	HP:0000883	Thin ribs	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0000883	HP:0000883	Thin ribs	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.	4
HP:0000883	HP:0000883	Thin ribs	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0000883	HP:0000883	Thin ribs	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.	12
HP:0000883	HP:0000883	Thin ribs	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83