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:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | . | | | 31 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040283 - Occasional | | | 22 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 276 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BRIP1 CL E G H | 83990 | 20473 | OMIM:609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ | | | | 1086 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | . | | | 118 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | . | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 114 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | . | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 291 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040281 - Very frequent | | | 291 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 88 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040281 - Very frequent | | | 73 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | . | | | 145 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040281 - Very frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:616113 | Polyendocrine-Polyneuropathy syndrome | . | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | | | | 25 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 250 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040281 - Very frequent | | | 250 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 6 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 158 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 199 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 55 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040281 - Very frequent | | | 92 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 197 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | | | | 83 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | . | | | 37 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | . | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040282 - Frequent | | | 69 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:615361 | Hypocalcemia, autosomal dominant 2 | HP:0040283 - Occasional | | | 16 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040281 - Very frequent | | | 240 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040281 - Very frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 5 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 4 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 4 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | . | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | | | | 91 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 9 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 9 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 9 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IGFALS CL E G H | 3483 | 5468 | OMIM:615961 | ACID-LABILE SUBUNIT DEFICIENCY; ACLSD | | | | 53 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040281 - Very frequent | | | 229 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | | | | 43 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040281 - Very frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040282 - Frequent | | | 88 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | . | | | 25 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040281 - Very frequent | | | 96 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | . | | | 1349 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PAPPA2 CL E G H | 60676 | 14615 | OMIM:619489 | SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 54 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PSPH CL E G H | 5723 | 9577 | OMIM:614023 | Phosphoserine phosphatase deficiency | . | | | 54 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | . | | | 71 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RNPC3 CL E G H | 55599 | 18666 | OMIM:618160 | Isolated growth hormone deficiency, type V | . | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | | | | 10 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | . | | | 77 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040281 - Very frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | . | | | 5 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040282 - Frequent | | | 255 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SLC5A2 CL E G H | 6524 | 11037 | ORPHA:69076 | Familial renal glucosuria | | | | 41 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 228 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 156 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:618985 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2 | | | | 12 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 180 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 248 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | | | | 9 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040282 - Frequent | | | 64 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:620028 | | | | | 2 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | | | | 389 | | |
HP:0008897 | HP:0008897 | Postnatal growth retardation | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040281 - Very frequent | | | 314 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040284 - Very rare | | | 83 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | IGFALS CL E G H | 3483 | 5468 | OMIM:615961 | ACID-LABILE SUBUNIT DEFICIENCY; ACLSD | | | | 53 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | . | | | 43 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040282 - Frequent | | | 6 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | HP:0040280 - Obligate | | | 10 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0008897 | HP:0008855 | Moderate postnatal growth retardation | 1 | SLC5A2 CL E G H | 6524 | 11037 | ORPHA:69076 | Familial renal glucosuria | HP:0040283 - Occasional | | | 41 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0008897 | HP:0001530 | Mild postnatal growth retardation | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0008897 | HP:0008850 | Severe postnatal growth retardation | 1 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040283 - Occasional | | | 389 | | |