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 curvature of the vertebral column (HP:0010674)

Parent Node:
Hyperlordosis (HP:0003307)

..Starting node
..Lumbar hyperlordosis (HP:0002938)

Term ID:

2938

Name:

Lumbar hyperlordosis

Synonym:

Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis

Definition:

An abnormal accentuation of the inward curvature of the spine in the lumbar region.

Comments:

Reference:

HP:0002938

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002938	HP:0002938	Lumbar hyperlordosis	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0002938	HP:0002938	Lumbar 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	HP:0040284 - Very rare	34
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.	6
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040281 - Very frequent	284
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional	108
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002938	HP:0002938	Lumbar 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:0002938	HP:0002938	Lumbar hyperlordosis	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040282 - Frequent	32
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0002938	HP:0002938	Lumbar 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:0002938	HP:0002938	Lumbar hyperlordosis	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0002938	HP:0002938	Lumbar 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:0002938	HP:0002938	Lumbar hyperlordosis	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0002938	HP:0002938	Lumbar hyperlordosis	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14

Genes (92) :ABCC9 ACAN ACP5 ACTA1 ADAMTS10 ALG14 ALG2 ALX3 AP1G1 ARSB ASH1L BCOR BGN CFL2 CHST3 CLCF1 COL10A1 COL11A2 COL12A1 COL2A1 COL6A1 COL6A2 COL6A3 COMP DAG1 DDRGK1 DMD DPAGT1 DYM EXTL3 FBN1 FGFR3 FKRP FN1 FUCA1 GARS1 GFPT1 GMPPB HACE1 HERC1 HSPG2 IHH ITCH KY LIPE LMX1B LTBP1 MATN3 MED12 MFN2 MYBPC1 MYH7 MYPN NAA10 NPR2 NSDHL OBSL1 PCGF2 PIEZO2 PLEC POLR3GL POMGNT1 POMK POMT1 POMT2 PRG4 PRKG2 RAB3GAP2 RERE RMRP RYR1 SATB2 SELENON SETBP1 SGCG SHOX SLC26A2 SMARCAL1 SON SOX5 SYT1 TMEM63C TOGARAM1 TONSL TPM2 TPM3 TRAPPC2 TRPV4 VCP VPS13B VPS33A XYLT1

Diseases (98) :OMIM:619719 OMIM:165800 ORPHA:171866 OMIM:612813 OMIM:607944 OMIM:255310 OMIM:277600 ORPHA:353327 ORPHA:391474 OMIM:619467 OMIM:253200 OMIM:617796 OMIM:309800 OMIM:300106 OMIM:610687 OMIM:143095 OMIM:610313 OMIM:156500 ORPHA:174 ORPHA:1427 OMIM:215150 ORPHA:610 ORPHA:94068 OMIM:183900 ORPHA:93315 OMIM:255600 OMIM:177170 ORPHA:750 ORPHA:280333 OMIM:613818 OMIM:602557 ORPHA:206546 OMIM:223800 ORPHA:508533 OMIM:608328 ORPHA:15 OMIM:100800 OMIM:616482 OMIM:146000 ORPHA:370959 OMIM:230000 OMIM:619042 OMIM:616756 ORPHA:457359 OMIM:255800 OMIM:607778 OMIM:613385 OMIM:617114 OMIM:615980 ORPHA:2614 OMIM:161200 OMIM:619451 OMIM:608728 ORPHA:156728 OMIM:305450 OMIM:601152 OMIM:618524 OMIM:160500 ORPHA:171881 OMIM:602875 ORPHA:251383 OMIM:612921 OMIM:618371 OMIM:114300 OMIM:613723 OMIM:619234 OMIM:609308 ORPHA:86812 ORPHA:2848 OMIM:619636 OMIM:212720 OMIM:616975 OMIM:607095 OMIM:250250 OMIM:619542 ORPHA:251028 OMIM:616078 ORPHA:353 OMIM:249700 OMIM:256050 OMIM:222600 OMIM:242900 ORPHA:1830 ORPHA:500150 ORPHA:313892 ORPHA:522077 OMIM:619966 OMIM:619185 ORPHA:93357 OMIM:271510 ORPHA:93284 OMIM:313400 ORPHA:93314 ORPHA:435387 OMIM:167320 OMIM:216550 ORPHA:505248 OMIM:615777

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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