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:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | HP:0003577 - Congenital onset | | 114 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 200 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | HP:0040282 - Frequent | | | 183 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | HP:0040283 - Occasional | | | 34 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 1129 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | . | | | 27 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | | | | 4 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | . | | | 57 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | HP:0040281 - Very frequent | | | 57 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040283 - Occasional | | | 134 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0000835 | HP:0000835 | Adrenal hypoplasia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0000835 | HP:0008244 | Congenital adrenal hypoplasia | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0000835 | HP:0008244 | Congenital adrenal hypoplasia | 1 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0000835 | HP:0008239 | Adrenal medullary hypoplasia | 1 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0000835 | HP:0008244 | Congenital adrenal hypoplasia | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 83 | | |