Human Phenotype Ontology

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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 vertebral column (HP:0000925)

Parent Node:
Abnormality of the curvature of the vertebral column (HP:0010674)

..Starting node
..Hyperlordosis (HP:0003307)

Term ID:

3307

Name:

Hyperlordosis

Synonym:

Lordosis; Prominent swayback

Definition:

Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.

Comments:

Reference:

HP:0003307

Genes and Diseases:

Child Nodes:

........

Lumbar hyperlordosis (HP:0002938)

Sister Nodes:

Abnormal cervical curvature (HP:0005905)

Abnormally straight spine (HP:0100795)

Camptocormia (HP:0100595)

Kyphosis (HP:0002808)

Scoliosis (HP:0002650)

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:0003307	HP:0003307	Hyperlordosis	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0003307	HP:0003307	Hyperlordosis	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans		34
HP:0003307	HP:0003307	Hyperlordosis	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0003307	HP:0003307	Hyperlordosis	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0003307	HP:0003307	Hyperlordosis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0003307	HP:0003307	Hyperlordosis	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0003307	HP:0003307	Hyperlordosis	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0003307	HP:0003307	Hyperlordosis	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.	96
HP:0003307	HP:0003307	Hyperlordosis	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0003307	HP:0003307	Hyperlordosis	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent	96
HP:0003307	HP:0003307	Hyperlordosis	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0003307	HP:0003307	Hyperlordosis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0003307	HP:0003307	Hyperlordosis	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0003307	HP:0003307	Hyperlordosis	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0003307	HP:0003307	Hyperlordosis	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0003307	HP:0003307	Hyperlordosis	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0003307	HP:0003307	Hyperlordosis	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0003307	HP:0003307	Hyperlordosis	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0003307	HP:0003307	Hyperlordosis	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0003307	HP:0003307	Hyperlordosis	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0003307	HP:0003307	Hyperlordosis	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0003307	HP:0003307	Hyperlordosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional	101
HP:0003307	HP:0003307	Hyperlordosis	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0003307	HP:0003307	Hyperlordosis	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0003307	HP:0003307	Hyperlordosis	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0003307	HP:0003307	Hyperlordosis	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional	46
HP:0003307	HP:0003307	Hyperlordosis	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional	46
HP:0003307	HP:0003307	Hyperlordosis	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0003307	HP:0003307	Hyperlordosis	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0003307	HP:0003307	Hyperlordosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0003307	HP:0003307	Hyperlordosis	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0003307	HP:0003307	Hyperlordosis	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0003307	HP:0003307	Hyperlordosis	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003307	HP:0003307	Hyperlordosis	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0003307	HP:0003307	Hyperlordosis	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0003307	HP:0003307	Hyperlordosis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0003307	HP:0003307	Hyperlordosis	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003307	HP:0003307	Hyperlordosis	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0003307	HP:0003307	Hyperlordosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0003307	HP:0003307	Hyperlordosis	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0003307	HP:0003307	Hyperlordosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0003307	HP:0003307	Hyperlordosis	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0003307	HP:0003307	Hyperlordosis	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0003307	HP:0003307	Hyperlordosis	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0003307	HP:0003307	Hyperlordosis	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0003307	HP:0003307	Hyperlordosis	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0003307	HP:0003307	Hyperlordosis	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0003307	HP:0003307	Hyperlordosis	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0003307	HP:0003307	Hyperlordosis	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003307	HP:0003307	Hyperlordosis	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0003307	HP:0003307	Hyperlordosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0003307	HP:0003307	Hyperlordosis	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0003307	HP:0003307	Hyperlordosis	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0003307	HP:0003307	Hyperlordosis	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0003307	HP:0003307	Hyperlordosis	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0003307	HP:0003307	Hyperlordosis	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0003307	HP:0003307	Hyperlordosis	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0003307	HP:0003307	Hyperlordosis	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003307	HP:0003307	Hyperlordosis	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0003307	HP:0003307	Hyperlordosis	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003307	HP:0003307	Hyperlordosis	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0003307	HP:0003307	Hyperlordosis	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0003307	HP:0003307	Hyperlordosis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional	39
HP:0003307	HP:0003307	Hyperlordosis	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0003307	HP:0003307	Hyperlordosis	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0003307	HP:0003307	Hyperlordosis	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0003307	HP:0003307	Hyperlordosis	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0003307	HP:0003307	Hyperlordosis	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0003307	HP:0003307	Hyperlordosis	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003307	HP:0003307	Hyperlordosis	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0003307	HP:0003307	Hyperlordosis	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003307	HP:0003307	Hyperlordosis	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0003307	HP:0003307	Hyperlordosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003307	HP:0003307	Hyperlordosis	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	79
HP:0003307	HP:0003307	Hyperlordosis	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0003307	HP:0003307	Hyperlordosis	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent
HP:0003307	HP:0003307	Hyperlordosis	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0003307	HP:0003307	Hyperlordosis	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0003307	HP:0003307	Hyperlordosis	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional	37
HP:0003307	HP:0003307	Hyperlordosis	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0003307	HP:0003307	Hyperlordosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0003307	HP:0003307	Hyperlordosis	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	107
HP:0003307	HP:0003307	Hyperlordosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0003307	HP:0003307	Hyperlordosis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0003307	HP:0003307	Hyperlordosis	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0003307	HP:0003307	Hyperlordosis	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0003307	HP:0003307	Hyperlordosis	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0003307	HP:0003307	Hyperlordosis	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0003307	HP:0003307	Hyperlordosis	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA		145
HP:0003307	HP:0003307	Hyperlordosis	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional	145
HP:0003307	HP:0003307	Hyperlordosis	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0003307	HP:0003307	Hyperlordosis	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0003307	HP:0003307	Hyperlordosis	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	68
HP:0003307	HP:0003307	Hyperlordosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0003307	HP:0003307	Hyperlordosis	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003307	HP:0003307	Hyperlordosis	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003307	HP:0003307	Hyperlordosis	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0003307	HP:0003307	Hyperlordosis	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0003307	HP:0003307	Hyperlordosis	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0003307	HP:0003307	Hyperlordosis	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	1
HP:0003307	HP:0003307	Hyperlordosis	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0003307	HP:0003307	Hyperlordosis	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003307	HP:0003307	Hyperlordosis	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003307	HP:0003307	Hyperlordosis	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0003307	HP:0003307	Hyperlordosis	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003307	HP:0003307	Hyperlordosis	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0003307	HP:0003307	Hyperlordosis	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0003307	HP:0003307	Hyperlordosis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003307	HP:0003307	Hyperlordosis	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0003307	HP:0003307	Hyperlordosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0003307	HP:0003307	Hyperlordosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0003307	HP:0003307	Hyperlordosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0003307	HP:0003307	Hyperlordosis	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003307	HP:0003307	Hyperlordosis	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003307	HP:0003307	Hyperlordosis	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0003307	HP:0003307	Hyperlordosis	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0003307	HP:0003307	Hyperlordosis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0003307	HP:0003307	Hyperlordosis	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0003307	HP:0003307	Hyperlordosis	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	5
HP:0003307	HP:0003307	Hyperlordosis	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0003307	HP:0003307	Hyperlordosis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0003307	HP:0003307	Hyperlordosis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003307	HP:0003307	Hyperlordosis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0003307	HP:0003307	Hyperlordosis	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003307	HP:0003307	Hyperlordosis	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent	44
HP:0003307	HP:0003307	Hyperlordosis	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0003307	HP:0003307	Hyperlordosis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0003307	HP:0003307	Hyperlordosis	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0003307	HP:0003307	Hyperlordosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0003307	HP:0003307	Hyperlordosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0003307	HP:0003307	Hyperlordosis	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0003307	HP:0003307	Hyperlordosis	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0003307	HP:0003307	Hyperlordosis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0003307	HP:0003307	Hyperlordosis	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003307	HP:0003307	Hyperlordosis	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0003307	HP:0003307	Hyperlordosis	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0003307	HP:0003307	Hyperlordosis	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003307	HP:0003307	Hyperlordosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0003307	HP:0003307	Hyperlordosis	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	645
HP:0003307	HP:0003307	Hyperlordosis	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	645
HP:0003307	HP:0003307	Hyperlordosis	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040282 - Frequent	645
HP:0003307	HP:0003307	Hyperlordosis	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0003307	HP:0003307	Hyperlordosis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0003307	HP:0003307	Hyperlordosis	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0003307	HP:0003307	Hyperlordosis	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003307	HP:0003307	Hyperlordosis	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003307	HP:0003307	Hyperlordosis	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0003307	HP:0003307	Hyperlordosis	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0003307	HP:0003307	Hyperlordosis	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0003307	HP:0003307	Hyperlordosis	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0003307	HP:0003307	Hyperlordosis	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0003307	HP:0003307	Hyperlordosis	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type		32
HP:0003307	HP:0003307	Hyperlordosis	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0003307	HP:0003307	Hyperlordosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0003307	HP:0003307	Hyperlordosis	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0003307	HP:0003307	Hyperlordosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0003307	HP:0003307	Hyperlordosis	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent	52
HP:0003307	HP:0003307	Hyperlordosis	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003307	HP:0003307	Hyperlordosis	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0003307	HP:0003307	Hyperlordosis	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0003307	HP:0003307	Hyperlordosis	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0003307	HP:0003307	Hyperlordosis	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0003307	HP:0003307	Hyperlordosis	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0003307	HP:0003307	Hyperlordosis	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0003307	HP:0003307	Hyperlordosis	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional	23
HP:0003307	HP:0003307	Hyperlordosis	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0003307	HP:0003307	Hyperlordosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0003307	HP:0003307	Hyperlordosis	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0003307	HP:0003307	Hyperlordosis	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0003307	HP:0003307	Hyperlordosis	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:0003307	HP:0003307	Hyperlordosis	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0003307	HP:0003307	Hyperlordosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0003307	HP:0003307	Hyperlordosis	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0003307	HP:0003307	Hyperlordosis	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0003307	HP:0003307	Hyperlordosis	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome		34
HP:0003307	HP:0003307	Hyperlordosis	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0003307	HP:0003307	Hyperlordosis	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0003307	HP:0003307	Hyperlordosis	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0003307	HP:0003307	Hyperlordosis	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0003307	HP:0003307	Hyperlordosis	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0003307	HP:0003307	Hyperlordosis	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0003307	HP:0003307	Hyperlordosis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0003307	HP:0003307	Hyperlordosis	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q		759
HP:0003307	HP:0003307	Hyperlordosis	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0003307	HP:0003307	Hyperlordosis	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003307	HP:0003307	Hyperlordosis	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0003307	HP:0003307	Hyperlordosis	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0003307	HP:0003307	Hyperlordosis	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0003307	HP:0003307	Hyperlordosis	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0003307	HP:0003307	Hyperlordosis	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1		213
HP:0003307	HP:0003307	Hyperlordosis	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0003307	HP:0003307	Hyperlordosis	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0003307	HP:0003307	Hyperlordosis	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0003307	HP:0003307	Hyperlordosis	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0003307	HP:0003307	Hyperlordosis	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0003307	HP:0003307	Hyperlordosis	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0003307	HP:0003307	Hyperlordosis	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0003307	HP:0003307	Hyperlordosis	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003307	HP:0003307	Hyperlordosis	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0003307	HP:0003307	Hyperlordosis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0003307	HP:0003307	Hyperlordosis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003307	HP:0003307	Hyperlordosis	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0003307	HP:0003307	Hyperlordosis	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0003307	HP:0003307	Hyperlordosis	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0003307	HP:0003307	Hyperlordosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003307	HP:0003307	Hyperlordosis	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0003307	HP:0003307	Hyperlordosis	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0003307	HP:0003307	Hyperlordosis	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0003307	HP:0003307	Hyperlordosis	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0003307	HP:0003307	Hyperlordosis	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0003307	HP:0003307	Hyperlordosis	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0003307	HP:0003307	Hyperlordosis	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0003307	HP:0003307	Hyperlordosis	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	HP:0040283 - Occasional	263
HP:0003307	HP:0003307	Hyperlordosis	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional	263
HP:0003307	HP:0003307	Hyperlordosis	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0003307	HP:0003307	Hyperlordosis	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0003307	HP:0003307	Hyperlordosis	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0003307	HP:0003307	Hyperlordosis	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent	144
HP:0003307	HP:0003307	Hyperlordosis	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0003307	HP:0003307	Hyperlordosis	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0003307	HP:0003307	Hyperlordosis	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0003307	HP:0003307	Hyperlordosis	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0003307	HP:0003307	Hyperlordosis	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0003307	HP:0003307	Hyperlordosis	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0003307	HP:0003307	Hyperlordosis	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003307	HP:0003307	Hyperlordosis	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0003307	HP:0003307	Hyperlordosis	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0003307	HP:0003307	Hyperlordosis	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0003307	HP:0003307	Hyperlordosis	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0003307	HP:0003307	Hyperlordosis	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	174
HP:0003307	HP:0003307	Hyperlordosis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0003307	HP:0003307	Hyperlordosis	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency		11
HP:0003307	HP:0003307	Hyperlordosis	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0003307	HP:0003307	Hyperlordosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	1129
HP:0003307	HP:0003307	Hyperlordosis	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	508
HP:0003307	HP:0003307	Hyperlordosis	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0003307	HP:0003307	Hyperlordosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0003307	HP:0003307	Hyperlordosis	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0003307	HP:0003307	Hyperlordosis	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003307	HP:0003307	Hyperlordosis	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0003307	HP:0003307	Hyperlordosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	171
HP:0003307	HP:0003307	Hyperlordosis	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0003307	HP:0003307	Hyperlordosis	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003307	HP:0003307	Hyperlordosis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003307	HP:0003307	Hyperlordosis	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003307	HP:0003307	Hyperlordosis	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.	47
HP:0003307	HP:0003307	Hyperlordosis	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0003307	HP:0003307	Hyperlordosis	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0003307	HP:0003307	Hyperlordosis	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0003307	HP:0003307	Hyperlordosis	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0003307	HP:0003307	Hyperlordosis	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0003307	HP:0003307	Hyperlordosis	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0003307	HP:0003307	Hyperlordosis	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0003307	HP:0003307	Hyperlordosis	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0003307	HP:0003307	Hyperlordosis	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27
HP:0003307	HP:0003307	Hyperlordosis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0003307	HP:0003307	Hyperlordosis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0003307	HP:0003307	Hyperlordosis	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0003307	HP:0003307	Hyperlordosis	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0003307	HP:0003307	Hyperlordosis	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0003307	HP:0003307	Hyperlordosis	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0003307	HP:0003307	Hyperlordosis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0003307	HP:0003307	Hyperlordosis	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0003307	HP:0003307	Hyperlordosis	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0003307	HP:0003307	Hyperlordosis	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0003307	HP:0003307	Hyperlordosis	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0003307	HP:0003307	Hyperlordosis	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0003307	HP:0003307	Hyperlordosis	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0003307	HP:0003307	Hyperlordosis	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0003307	HP:0003307	Hyperlordosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003307	HP:0003307	Hyperlordosis	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0003307	HP:0003307	Hyperlordosis	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0003307	HP:0003307	Hyperlordosis	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	HP:0040284 - Very rare	34
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.	6
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040281 - Very frequent	284
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional	108
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040282 - Frequent	32
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0003307	HP:0002938	Lumbar hyperlordosis	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14

Genes (206) :ABCC9 ACAN ACP5 ACTA1 ADAMTS10 ALG14 ALG2 ALX3 AMER1 AP1G1 ARSB ARSK ASH1L BAZ1B BCL7B BCOR BCR BGN BICD2 BIN1 BUD23 CANT1 CAPN3 CAVIN1 CCDC8 CCN6 CFL2 CHST3 CLCF1 CLIP2 COL10A1 COL11A2 COL12A1 COL1A2 COL2A1 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COLQ COMP CRKL CSGALNACT1 CTSK CUL7 DAG1 DDRGK1 DMD DNA2 DNAJC30 DNM2 DNMT3B DPAGT1 DUX4 DYM DYSF ECEL1 EIF2AK3 EIF4H ELN EMD EXTL3 FBN1 FGFR2 FGFR3 FHL1 FKBP6 FKRP FKTN FLNB FN1 FRG1 FUCA1 GALNS GARS1 GFPT1 GLB1 GMPPB GNB2 GNPTG GTF2I GTF2IRD1 GTF2IRD2 H4C5 HACD1 HACE1 HERC1 HNRNPA1 HNRNPA2B1 HNRNPH2 HSPG2 IARS2 IHH INPP5K ITCH ITGA7 KANSL1 KIF1A KLHL41 KNSTRN KY L1CAM LAMA2 LBR LIMK1 LIPE LMNA LMOD3 LMX1B LTBP1 MAP3K20 MAPK1 MAPK8IP3 MASP1 MATN3 MED12 METTL27 MFN2 MLXIPL MMP13 MTMR14 MYBPC1 MYH7 MYL2 MYPN NAA10 NCF1 NEB NECTIN1 NF1 NOTCH3 NPR2 NSDHL OBSL1 PCGF2 PIEZO2 PIK3C2A PIK3CD PLEC PLEKHG5 POLR3GL POMGNT1 POMK POMT1 POMT2 POP1 PPM1D PPP1R15B PRG4 PRKG2 RAB3GAP1 RAB3GAP2 RERE RET RETREG1 RFC2 RMRP RSPRY1 RYR1 SATB2 SCN4A SCN9A SELENON SETBP1 SETD5 SGCA SGCG SHOX SLC10A7 SLC26A2 SMARCAL1 SMCHD1 SON SOX5 SPEG STX1A SYNE1 SYNE2 SYT1 TBL2 TBX6 TFAP2A TFE3 TGFB1 TMEM270 TMEM43 TMEM63C TOGARAM1 TONSL TOR1A TPM2 TPM3 TRAPPC11 TRAPPC2 TRPS1 TRPV4 TTN TWIST1 VCP VPS13B VPS33A VPS37D WNK1 XYLT1 ZC4H2

Diseases (205) :OMIM:619719 OMIM:165800 OMIM:612813 ORPHA:171866 OMIM:607944 ORPHA:2020 OMIM:255310 OMIM:616852 OMIM:161800 ORPHA:97244 ORPHA:171436 OMIM:277600 ORPHA:353327 OMIM:616228 ORPHA:391474 ORPHA:2780 OMIM:619467 OMIM:253200 OMIM:619698 OMIM:617796 ORPHA:904 ORPHA:568 OMIM:309800 ORPHA:261330 OMIM:300106 ORPHA:363454 OMIM:615290 ORPHA:169186 OMIM:255200 OMIM:251450 ORPHA:267 OMIM:618129 OMIM:613327 ORPHA:2616 OMIM:614205 ORPHA:1159 OMIM:610687 OMIM:143095 OMIM:610313 OMIM:156500 ORPHA:174 OMIM:215150 ORPHA:1427 ORPHA:610 ORPHA:536516 OMIM:617821 OMIM:184250 OMIM:183900 ORPHA:94068 ORPHA:93315 OMIM:255600 ORPHA:293843 OMIM:603034 ORPHA:750 OMIM:177170 OMIM:618870 ORPHA:763 OMIM:273750 ORPHA:280333 OMIM:613818 ORPHA:93352 OMIM:602557 OMIM:310200 ORPHA:206546 ORPHA:352470 OMIM:160150 ORPHA:269 OMIM:223800 ORPHA:268 OMIM:615065 OMIM:226980 ORPHA:98863 ORPHA:508533 OMIM:608328 ORPHA:794 OMIM:100800 ORPHA:15 OMIM:616482 OMIM:146000 ORPHA:429 OMIM:300718 ORPHA:370959 OMIM:606612 OMIM:607155 OMIM:611588 OMIM:272460 OMIM:230000 OMIM:253000 OMIM:619042 OMIM:253010 OMIM:619503 OMIM:252605 OMIM:619950 OMIM:616756 OMIM:617011 ORPHA:457359 ORPHA:52430 OMIM:300986 ORPHA:800 OMIM:255800 OMIM:616007 OMIM:607778 ORPHA:63446 OMIM:617404 OMIM:613385 ORPHA:363958 ORPHA:363965 ORPHA:970 ORPHA:221139 OMIM:617114 OMIM:303350 ORPHA:258 OMIM:618019 OMIM:615980 ORPHA:98853 ORPHA:98855 ORPHA:157973 ORPHA:2614 OMIM:161200 OMIM:619451 OMIM:617760 OMIM:618443 OMIM:608728 ORPHA:156728 OMIM:305450 OMIM:601152 ORPHA:2501 OMIM:618524 ORPHA:437572 OMIM:160500 ORPHA:171881 OMIM:256030 ORPHA:3253 ORPHA:363700 ORPHA:2789 OMIM:602875 ORPHA:40 ORPHA:251383 OMIM:300831 OMIM:612921 OMIM:618371 OMIM:114300 ORPHA:557003 OMIM:613723 OMIM:611067 OMIM:619234 OMIM:613157 OMIM:609308 ORPHA:86812 OMIM:613156 OMIM:617396 OMIM:617450 OMIM:616817 ORPHA:2848 OMIM:619636 ORPHA:1387 OMIM:212720 OMIM:616975 OMIM:162300 OMIM:607095 ORPHA:175 OMIM:250250 ORPHA:457395 OMIM:619542 ORPHA:251028 OMIM:614198 ORPHA:99735 OMIM:616078 OMIM:615761 ORPHA:62 ORPHA:353 OMIM:253700 OMIM:249700 OMIM:618363 OMIM:256050 OMIM:222600 OMIM:242900 ORPHA:1830 ORPHA:500150 ORPHA:313892 ORPHA:522077 ORPHA:1797 OMIM:113620 OMIM:301066 ORPHA:1328 OMIM:619966 OMIM:619185 ORPHA:93357 OMIM:271510 OMIM:128100 OMIM:615356 ORPHA:369840 ORPHA:93284 OMIM:313400 ORPHA:77258 OMIM:190350 OMIM:181405 OMIM:600175 ORPHA:93314 ORPHA:435387 OMIM:167320 OMIM:216550 ORPHA:505248 OMIM:615777 OMIM:314580

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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