Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 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 | 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 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
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 | 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 | ORPHA:750 | Pseudoachondroplasia | HP:0040282 - Frequent | | | 89 | | |
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 | 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 | | |