Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the vertebral column (HP:0000925)help
Parent Node:
expand
Abnormality of the curvature of the vertebral column (HP:0010674)help
..Starting node
..expand
Hyperlordosis (HP:0003307)help
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:
........expandLumbar hyperlordosis (HP:0002938) help

 Sister Nodes: 
..expandAbnormal cervical curvature (HP:0005905) help
..expandAbnormally straight spine (HP:0100795) help
..expandCamptocormia (HP:0100595) help
..expandKyphosis (HP:0002808) help
..expandScoliosis (HP:0002650) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003307HP:0003307Hyperlordosis0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0003307HP:0003307Hyperlordosis0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans34
HP:0003307HP:0003307Hyperlordosis0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0003307HP:0003307Hyperlordosis0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type34
HP:0003307HP:0003307Hyperlordosis0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal.96
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040282 - Frequent96
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0003307HP:0003307Hyperlordosis0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0003307HP:0003307Hyperlordosis0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0003307HP:0003307Hyperlordosis0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0003307HP:0003307Hyperlordosis0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0003307HP:0003307Hyperlordosis0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0003307HP:0003307Hyperlordosis0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0003307HP:0003307Hyperlordosis0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0003307HP:0003307Hyperlordosis0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0003307HP:0003307Hyperlordosis0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0003307HP:0003307Hyperlordosis0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0003307HP:0003307Hyperlordosis0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0003307HP:0003307Hyperlordosis0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0003307HP:0003307Hyperlordosis0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0003307HP:0003307Hyperlordosis0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked7
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040283 - Occasional46
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominantHP:0040283 - Occasional46
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0003307HP:0003307Hyperlordosis0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0003307HP:0003307Hyperlordosis0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0003307HP:0003307Hyperlordosis0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040283 - Occasional
HP:0003307HP:0003307Hyperlordosis0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0003307HP:0003307Hyperlordosis0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0003307HP:0003307Hyperlordosis0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0003307HP:0003307Hyperlordosis0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 26
HP:0003307HP:0003307Hyperlordosis0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0003307HP:0003307Hyperlordosis0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid type79
HP:0003307HP:0003307Hyperlordosis0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0003307HP:0003307Hyperlordosis0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0003307HP:0003307Hyperlordosis0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003307HP:0003307Hyperlordosis0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0003307HP:0003307Hyperlordosis0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0003307HP:0003307Hyperlordosis0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003307HP:0003307Hyperlordosis0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003307HP:0003307Hyperlordosis0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0003307HP:0003307Hyperlordosis0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003307HP:0003307Hyperlordosis0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0003307HP:0003307Hyperlordosis0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0003307HP:0003307Hyperlordosis0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003307HP:0003307Hyperlordosis0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0003307HP:0003307Hyperlordosis0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0003307HP:0003307Hyperlordosis0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0003307HP:0003307Hyperlordosis0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0003307HP:0003307Hyperlordosis0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040283 - Occasional39
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0003307HP:0003307Hyperlordosis0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0003307HP:0003307Hyperlordosis0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9108
HP:0003307HP:0003307Hyperlordosis0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003307HP:0003307Hyperlordosis0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0003307HP:0003307Hyperlordosis0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0003307HP:0003307Hyperlordosis0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003307HP:0003307Hyperlordosis0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0003307HP:0003307Hyperlordosis0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003307HP:0003307Hyperlordosis0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent79
HP:0003307HP:0003307Hyperlordosis0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0003307HP:0003307Hyperlordosis0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent
HP:0003307HP:0003307Hyperlordosis0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0003307HP:0003307Hyperlordosis0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0003307HP:0003307Hyperlordosis0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5DHP:0040283 - Occasional37
HP:0003307HP:0003307Hyperlordosis0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0003307HP:0003307Hyperlordosis0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0003307HP:0003307Hyperlordosis0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional107
HP:0003307HP:0003307Hyperlordosis0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0003307HP:0003307Hyperlordosis0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0003307HP:0003307Hyperlordosis0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA145
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H22613690ORPHA:429HypochondroplasiaHP:0040283 - Occasional145
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional68
HP:0003307HP:0003307Hyperlordosis0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003307HP:0003307Hyperlordosis0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0003307HP:0003307Hyperlordosis0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0003307HP:0003307Hyperlordosis0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type9
HP:0003307HP:0003307Hyperlordosis0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent1
HP:0003307HP:0003307Hyperlordosis0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0003307HP:0003307Hyperlordosis0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0003307HP:0003307Hyperlordosis0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003307HP:0003307Hyperlordosis0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0003307HP:0003307Hyperlordosis0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0003307HP:0003307Hyperlordosis0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0003307HP:0003307Hyperlordosis0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0003307HP:0003307Hyperlordosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003307HP:0003307Hyperlordosis0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0003307HP:0003307Hyperlordosis0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003307HP:0003307Hyperlordosis0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003307HP:0003307Hyperlordosis0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003307HP:0003307Hyperlordosis0H4C5 CL E G H83674790OMIM:619950
HP:0003307HP:0003307Hyperlordosis0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0003307HP:0003307Hyperlordosis0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0003307HP:0003307Hyperlordosis0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0003307HP:0003307Hyperlordosis0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0003307HP:0003307Hyperlordosis0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent31
HP:0003307HP:0003307Hyperlordosis0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent5
HP:0003307HP:0003307Hyperlordosis0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0003307HP:0003307Hyperlordosis0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0003307HP:0003307Hyperlordosis0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003307HP:0003307Hyperlordosis0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0003307HP:0003307Hyperlordosis0IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasiaHP:0040282 - Frequent44
HP:0003307HP:0003307Hyperlordosis0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0003307HP:0003307Hyperlordosis0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0003307HP:0003307Hyperlordosis0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0003307HP:0003307Hyperlordosis0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0003307HP:0003307Hyperlordosis0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0003307HP:0003307Hyperlordosis0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0003307HP:0003307Hyperlordosis0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0003307HP:0003307Hyperlordosis0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0003307HP:0003307Hyperlordosis0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0003307HP:0003307Hyperlordosis0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0003307HP:0003307Hyperlordosis0L1CAM CL E G H38976470OMIM:303350MASA syndrome.134
HP:0003307HP:0003307Hyperlordosis0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0003307HP:0003307Hyperlordosis0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003307HP:0003307Hyperlordosis0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040282 - Frequent645
HP:0003307HP:0003307Hyperlordosis0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0003307HP:0003307Hyperlordosis0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0003307HP:0003307Hyperlordosis0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0003307HP:0003307Hyperlordosis0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0003307HP:0003307Hyperlordosis0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0003307HP:0003307Hyperlordosis0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0003307HP:0003307Hyperlordosis0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0003307HP:0003307Hyperlordosis0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related32
HP:0003307HP:0003307Hyperlordosis0MATN3 CL E G H41486909ORPHA:156728Spondyloepimetaphyseal dysplasia, matrilin-3 type32
HP:0003307HP:0003307Hyperlordosis0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0003307HP:0003307Hyperlordosis0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003307HP:0003307Hyperlordosis0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0003307HP:0003307Hyperlordosis0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003307HP:0003307Hyperlordosis0MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040281 - Very frequent52
HP:0003307HP:0003307Hyperlordosis0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003307HP:0003307Hyperlordosis0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0003307HP:0003307Hyperlordosis0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0003307HP:0003307Hyperlordosis0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0003307HP:0003307Hyperlordosis0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003307HP:0003307Hyperlordosis0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0003307HP:0003307Hyperlordosis0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0003307HP:0003307Hyperlordosis0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0003307HP:0003307Hyperlordosis0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0003307HP:0003307Hyperlordosis0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0003307HP:0003307Hyperlordosis0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040283 - Occasional4
HP:0003307HP:0003307Hyperlordosis0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0003307HP:0003307Hyperlordosis0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040283 - Occasional144
HP:0003307HP:0003307Hyperlordosis0NPR2 CL E G H48827944ORPHA:40Acromesomelic dysplasia, Maroteaux typeHP:0040282 - Frequent53
HP:0003307HP:0003307Hyperlordosis0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0003307HP:0003307Hyperlordosis0NSDHL CL E G H5081413398ORPHA:251383CK syndrome34
HP:0003307HP:0003307Hyperlordosis0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0003307HP:0003307Hyperlordosis0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0003307HP:0003307Hyperlordosis0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0003307HP:0003307Hyperlordosis0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0003307HP:0003307Hyperlordosis0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0003307HP:0003307Hyperlordosis0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q759
HP:0003307HP:0003307Hyperlordosis0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0003307HP:0003307Hyperlordosis0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003307HP:0003307Hyperlordosis0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0003307HP:0003307Hyperlordosis0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0003307HP:0003307Hyperlordosis0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0003307HP:0003307Hyperlordosis0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0003307HP:0003307Hyperlordosis0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1213
HP:0003307HP:0003307Hyperlordosis0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003307HP:0003307Hyperlordosis0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0003307HP:0003307Hyperlordosis0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0003307HP:0003307Hyperlordosis0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0003307HP:0003307Hyperlordosis0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0003307HP:0003307Hyperlordosis0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0003307HP:0003307Hyperlordosis0PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0003307HP:0003307Hyperlordosis0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003307HP:0003307Hyperlordosis0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0003307HP:0003307Hyperlordosis0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0003307HP:0003307Hyperlordosis0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0003307HP:0003307Hyperlordosis0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0003307HP:0003307Hyperlordosis0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0003307HP:0003307Hyperlordosis0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0003307HP:0003307Hyperlordosis0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0003307HP:0003307Hyperlordosis0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0003307HP:0003307Hyperlordosis0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0003307HP:0003307Hyperlordosis0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0003307HP:0003307Hyperlordosis0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0003307HP:0003307Hyperlordosis0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0003307HP:0003307Hyperlordosis0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0003307HP:0003307Hyperlordosis0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16HP:0040283 - Occasional263
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0003307HP:0003307Hyperlordosis0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040282 - Frequent144
HP:0003307HP:0003307Hyperlordosis0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0003307HP:0003307Hyperlordosis0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0003307HP:0003307Hyperlordosis0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0003307HP:0003307Hyperlordosis0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0003307HP:0003307Hyperlordosis0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0003307HP:0003307Hyperlordosis0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia66
HP:0003307HP:0003307Hyperlordosis0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0003307HP:0003307Hyperlordosis0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0003307HP:0003307Hyperlordosis0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003307HP:0003307Hyperlordosis0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0003307HP:0003307Hyperlordosis0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0003307HP:0003307Hyperlordosis0SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent174
HP:0003307HP:0003307Hyperlordosis0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0003307HP:0003307Hyperlordosis0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiency11
HP:0003307HP:0003307Hyperlordosis0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0003307HP:0003307Hyperlordosis0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional1129
HP:0003307HP:0003307Hyperlordosis0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional508
HP:0003307HP:0003307Hyperlordosis0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0003307HP:0003307Hyperlordosis0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosisHP:0040282 - Frequent19
HP:0003307HP:0003307Hyperlordosis0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0003307HP:0003307Hyperlordosis0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003307HP:0003307Hyperlordosis0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0003307HP:0003307Hyperlordosis0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional171
HP:0003307HP:0003307Hyperlordosis0TMEM63C CL E G H5715623787OMIM:619966
HP:0003307HP:0003307Hyperlordosis0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0003307HP:0003307Hyperlordosis0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0003307HP:0003307Hyperlordosis0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003307HP:0003307Hyperlordosis0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0003307HP:0003307Hyperlordosis0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0003307HP:0003307Hyperlordosis0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0003307HP:0003307Hyperlordosis0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0003307HP:0003307Hyperlordosis0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0003307HP:0003307Hyperlordosis0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked46
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040282 - Frequent171
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0003307HP:0003307Hyperlordosis0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0003307HP:0003307Hyperlordosis0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0003307HP:0003307Hyperlordosis0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0003307HP:0003307Hyperlordosis0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0003307HP:0003307Hyperlordosis0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent63
HP:0003307HP:0003307Hyperlordosis0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0003307HP:0003307Hyperlordosis0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0003307HP:0003307Hyperlordosis0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003307HP:0003307Hyperlordosis0WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent199
HP:0003307HP:0003307Hyperlordosis0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0003307HP:0003307Hyperlordosis0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0003307HP:0002938Lumbar hyperlordosis1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0003307HP:0002938Lumbar hyperlordosis1ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecansHP:0040284 - Very rare34
HP:0003307HP:0002938Lumbar hyperlordosis1ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0003307HP:0002938Lumbar hyperlordosis1ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0003307HP:0002938Lumbar hyperlordosis1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0003307HP:0002938Lumbar hyperlordosis1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0003307HP:0002938Lumbar hyperlordosis1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0003307HP:0002938Lumbar hyperlordosis1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0003307HP:0002938Lumbar hyperlordosis1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0003307HP:0002938Lumbar hyperlordosis1AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0003307HP:0002938Lumbar hyperlordosis1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0003307HP:0002938Lumbar hyperlordosis1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0003307HP:0002938Lumbar hyperlordosis1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0003307HP:0002938Lumbar hyperlordosis1BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0003307HP:0002938Lumbar hyperlordosis1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0003307HP:0002938Lumbar hyperlordosis1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0003307HP:0002938Lumbar hyperlordosis1CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0003307HP:0002938Lumbar hyperlordosis1COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0003307HP:0002938Lumbar hyperlordosis1COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040283 - Occasional79
HP:0003307HP:0002938Lumbar hyperlordosis1COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0003307HP:0002938Lumbar hyperlordosis1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0003307HP:0002938Lumbar hyperlordosis1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040281 - Very frequent284
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0003307HP:0002938Lumbar hyperlordosis1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0003307HP:0002938Lumbar hyperlordosis1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0003307HP:0002938Lumbar hyperlordosis1COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0003307HP:0002938Lumbar hyperlordosis1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0003307HP:0002938Lumbar hyperlordosis1COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040282 - Frequent89
HP:0003307HP:0002938Lumbar hyperlordosis1COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0003307HP:0002938Lumbar hyperlordosis1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040283 - Occasional108
HP:0003307HP:0002938Lumbar hyperlordosis1DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0003307HP:0002938Lumbar hyperlordosis1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0003307HP:0002938Lumbar hyperlordosis1DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003307HP:0002938Lumbar hyperlordosis1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0003307HP:0002938Lumbar hyperlordosis1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0003307HP:0002938Lumbar hyperlordosis1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0003307HP:0002938Lumbar hyperlordosis1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA.145
HP:0003307HP:0002938Lumbar hyperlordosis1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent157
HP:0003307HP:0002938Lumbar hyperlordosis1FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0003307HP:0002938Lumbar hyperlordosis1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0003307HP:0002938Lumbar hyperlordosis1GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003307HP:0002938Lumbar hyperlordosis1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0003307HP:0002938Lumbar hyperlordosis1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent34
HP:0003307HP:0002938Lumbar hyperlordosis1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0003307HP:0002938Lumbar hyperlordosis1HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0003307HP:0002938Lumbar hyperlordosis1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0003307HP:0002938Lumbar hyperlordosis1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0003307HP:0002938Lumbar hyperlordosis1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0003307HP:0002938Lumbar hyperlordosis1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0003307HP:0002938Lumbar hyperlordosis1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0003307HP:0002938Lumbar hyperlordosis1LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0003307HP:0002938Lumbar hyperlordosis1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0003307HP:0002938Lumbar hyperlordosis1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0003307HP:0002938Lumbar hyperlordosis1LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003307HP:0002938Lumbar hyperlordosis1MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0003307HP:0002938Lumbar hyperlordosis1MATN3 CL E G H41486909ORPHA:156728Spondyloepimetaphyseal dysplasia, matrilin-3 typeHP:0040282 - Frequent32
HP:0003307HP:0002938Lumbar hyperlordosis1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0003307HP:0002938Lumbar hyperlordosis1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0003307HP:0002938Lumbar hyperlordosis1MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0003307HP:0002938Lumbar hyperlordosis1MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0003307HP:0002938Lumbar hyperlordosis1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003307HP:0002938Lumbar hyperlordosis1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0003307HP:0002938Lumbar hyperlordosis1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0003307HP:0002938Lumbar hyperlordosis1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0003307HP:0002938Lumbar hyperlordosis1NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0003307HP:0002938Lumbar hyperlordosis1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0003307HP:0002938Lumbar hyperlordosis1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0003307HP:0002938Lumbar hyperlordosis1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0003307HP:0002938Lumbar hyperlordosis1PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0003307HP:0002938Lumbar hyperlordosis1POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003307HP:0002938Lumbar hyperlordosis1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent180
HP:0003307HP:0002938Lumbar hyperlordosis1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent18
HP:0003307HP:0002938Lumbar hyperlordosis1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent213
HP:0003307HP:0002938Lumbar hyperlordosis1POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0003307HP:0002938Lumbar hyperlordosis1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0003307HP:0002938Lumbar hyperlordosis1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent221
HP:0003307HP:0002938Lumbar hyperlordosis1PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0003307HP:0002938Lumbar hyperlordosis1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003307HP:0002938Lumbar hyperlordosis1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0003307HP:0002938Lumbar hyperlordosis1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0003307HP:0002938Lumbar hyperlordosis1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0003307HP:0002938Lumbar hyperlordosis1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0003307HP:0002938Lumbar hyperlordosis1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0003307HP:0002938Lumbar hyperlordosis1RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0003307HP:0002938Lumbar hyperlordosis1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0003307HP:0002938Lumbar hyperlordosis1SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0003307HP:0002938Lumbar hyperlordosis1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0003307HP:0002938Lumbar hyperlordosis1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003307HP:0002938Lumbar hyperlordosis1SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0003307HP:0002938Lumbar hyperlordosis1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0003307HP:0002938Lumbar hyperlordosis1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003307HP:0002938Lumbar hyperlordosis1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0003307HP:0002938Lumbar hyperlordosis1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0003307HP:0002938Lumbar hyperlordosis1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0003307HP:0002938Lumbar hyperlordosis1SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0003307HP:0002938Lumbar hyperlordosis1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0003307HP:0002938Lumbar hyperlordosis1TMEM63C CL E G H5715623787OMIM:619966
HP:0003307HP:0002938Lumbar hyperlordosis1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0003307HP:0002938Lumbar hyperlordosis1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0003307HP:0002938Lumbar hyperlordosis1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0003307HP:0002938Lumbar hyperlordosis1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0003307HP:0002938Lumbar hyperlordosis1TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0003307HP:0002938Lumbar hyperlordosis1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0003307HP:0002938Lumbar hyperlordosis1TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0003307HP:0002938Lumbar hyperlordosis1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040283 - Occasional46
HP:0003307HP:0002938Lumbar hyperlordosis1TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0003307HP:0002938Lumbar hyperlordosis1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0003307HP:0002938Lumbar hyperlordosis1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003307HP:0002938Lumbar hyperlordosis1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0003307HP:0002938Lumbar hyperlordosis1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0003307HP:0002938Lumbar hyperlordosis1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0003307HP:0002938Lumbar hyperlordosis1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214


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 OMIM:177170 ORPHA:750 OMIM:618870 ORPHA:763 OMIM:273750 ORPHA:280333 OMIM:613818 OMIM:602557 ORPHA:93352 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 ORPHA:63446 OMIM:607778 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 OMIM:161200 ORPHA:2614 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 ORPHA:40 OMIM:602875 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 OMIM:250250 ORPHA:175 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.