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:0004482 | HP:0004482 | Relative macrocephaly | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040281 - Very frequent | | | 34 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | . | | | 1 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | BGN CL E G H | 633 | 1044 | OMIM:300989 | Meester-Loeys syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 114 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | . | | | 72 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | DOCK3 CL E G H | 1795 | 2989 | OMIM:618292 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | | | | 3 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040282 - Frequent | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 4 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 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:0004482 | HP:0004482 | Relative macrocephaly | 0 | HMGA2 CL E G H | 8091 | 5009 | OMIM:618908 | SILVER-RUSSELL SYNDROME 5; SRS5 | | | | 2 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 2 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 9 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 9 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 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:0004482 | HP:0004482 | Relative macrocephaly | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | . | | | 1952 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | . | | | 143 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 3 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615139 | Facial dysmorphism, immunodeficiency, livedo, and short stature | . | | | 1129 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | . | | | 9 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | . | | | 14 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040283 - Occasional | | | 14 | | |
HP:0004482 | HP:0004482 | Relative macrocephaly | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |