Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the penis (HP:0000036)help
Grandparent Node:
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Hypoplastic male external genitalia (HP:0000050)help
Parent Node:
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Hypoplasia of penis (HP:0008736)help
..Starting node
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Micropenis (HP:0000054)help
Term ID: 54
Name: Micropenis
Synonym: Short penis; Small penis
Definition: Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Comments:
Reference: HP:0000054
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMicrophallus (HP:0030260) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000054HP:0000054Micropenis0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000054HP:0000054Micropenis0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000054HP:0000054Micropenis0ALX4 CL E G H6052952022ORPHA127221450605420
HP:0000054HP:0000054Micropenis0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA11913466211300836
HP:0000054HP:0000054Micropenis0ANOS1 CL E G H3730432ArbovirosisORPHA11913466211300836
HP:0000054HP:0000054Micropenis0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913466211300836
HP:0000054HP:0000054Micropenis0AR CL E G H36790797ORPHA1627400644313700
HP:0000054HP:0000054Micropenis0AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1627400644313700
HP:0000054HP:0000054Micropenis0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0000054HP:0000054Micropenis0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0000054HP:0000054Micropenis0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000054HP:0000054Micropenis0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000054HP:0000054Micropenis0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000054HP:0000054Micropenis0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1942905109135
HP:0000054HP:0000054Micropenis0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0000054HP:0000054Micropenis0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM144028636611951
HP:0000054HP:0000054Micropenis0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0000054HP:0000054Micropenis0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000054HP:0000054Micropenis0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM11012324564615944
HP:0000054HP:0000054Micropenis0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA116626821616031
HP:0000054HP:0000054Micropenis0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM116626821616031
HP:0000054HP:0000054Micropenis0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0000054HP:0000054Micropenis0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0000054HP:0000054Micropenis0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000054HP:0000054Micropenis0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1814711786600856
HP:0000054HP:0000054Micropenis0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0000054HP:0000054Micropenis0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0000054HP:0000054Micropenis0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0000054HP:0000054Micropenis0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA1884126620626608892
HP:0000054HP:0000054Micropenis0CHD7 CL E G H55636432ArbovirosisORPHA1884126620626608892
HP:0000054HP:0000054Micropenis0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0000054HP:0000054Micropenis0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000054HP:0000054Micropenis0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000054HP:0000054Micropenis0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0000054HP:0000054Micropenis0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000054HP:0000054Micropenis0CYB5A CL E G H152890796ORPHA171422570613218
HP:0000054HP:0000054Micropenis0CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM171422570613218
HP:0000054HP:0000054Micropenis0CYP17A1 CL E G H158690796ORPHA11301272593609300
HP:0000054HP:0000054Micropenis0CYP17A1 CL E G H158690793ORPHA11301272593609300
HP:0000054HP:0000054Micropenis0DCAF17 CL E G H800673464ORPHA11817525784612515
HP:0000054HP:0000054Micropenis0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM11817525784612515
HP:0000054HP:0000054Micropenis0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA1411232701120470
HP:0000054HP:0000054Micropenis0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423302714300121
HP:0000054HP:0000054Micropenis0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000054HP:0000054Micropenis0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM1812220603608172
HP:0000054HP:0000054Micropenis0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0000054HP:0000054Micropenis0DMRT3 CL E G H58524251510ORPHA1119313909614754
HP:0000054HP:0000054Micropenis0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA15243072602748
HP:0000054HP:0000054Micropenis0DUSP6 CL E G H1848432ArbovirosisORPHA15243072602748
HP:0000054HP:0000054Micropenis0DUSP6 CL E G H1848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15243072602748
HP:0000054HP:0000054Micropenis0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000054HP:0000054Micropenis0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0000054HP:0000054Micropenis0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000054HP:0000054Micropenis0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000054HP:0000054Micropenis0ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM17473146600423
HP:0000054HP:0000054Micropenis0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000054HP:0000054Micropenis0EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0000054HP:0000054Micropenis0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000054HP:0000054Micropenis0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11082273434126340
HP:0000054HP:0000054Micropenis0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000054HP:0000054Micropenis0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000054HP:0000054Micropenis0EXT2 CL E G H213252022ORPHA12582753513608210
HP:0000054HP:0000054Micropenis0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0000054HP:0000054Micropenis0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000054HP:0000054Micropenis0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA134122788613301
HP:0000054HP:0000054Micropenis0FEZF1 CL E G H389549616030Hypogonadotropic hypogonadism 22 with or without anosmia616030C4014988OMIM134122788613301
HP:0000054HP:0000054Micropenis0FEZF1 CL E G H389549146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM134122788613301
HP:0000054HP:0000054Micropenis0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA15823673603725
HP:0000054HP:0000054Micropenis0FGF17 CL E G H8822432ArbovirosisORPHA15823673603725
HP:0000054HP:0000054Micropenis0FGF17 CL E G H8822146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15823673603725
HP:0000054HP:0000054Micropenis0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA141543686600483
HP:0000054HP:0000054Micropenis0FGF8 CL E G H2253432ArbovirosisORPHA141543686600483
HP:0000054HP:0000054Micropenis0FGF8 CL E G H2253612702Kallmann syndrome 6612702C2675188OMIM141543686600483
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA12653883688136350
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H2260432ArbovirosisORPHA12653883688136350
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM12653883688136350
HP:0000054HP:0000054Micropenis0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000054HP:0000054Micropenis0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000054HP:0000054Micropenis0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA17413762604808
HP:0000054HP:0000054Micropenis0FLRT3 CL E G H23767146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM17413762604808
HP:0000054HP:0000054Micropenis0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000054HP:0000054Micropenis0FZD2 CL E G H2535164745Omodysplasia 2164745C2750355OMIM17304040600667
HP:0000054HP:0000054Micropenis0GATA4 CL E G H2626251510ORPHA11713414173600576
HP:0000054HP:0000054Micropenis0GATA4 CL E G H2626615542Testicular anomalies with or without congenital heart disease615542C3809858OMIM11713414173600576
HP:0000054HP:0000054Micropenis0GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM1883724318165230
HP:0000054HP:0000054Micropenis0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000054HP:0000054Micropenis0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM12445374319165240
HP:0000054HP:0000054Micropenis0GNRH1 CL E G H2796432ArbovirosisORPHA112974419152760
HP:0000054HP:0000054Micropenis0GNRH1 CL E G H2796146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM112974419152760
HP:0000054HP:0000054Micropenis0GNRHR CL E G H2798432ArbovirosisORPHA1591584421138850
HP:0000054HP:0000054Micropenis0GNRHR CL E G H2798146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1591584421138850
HP:0000054HP:0000054Micropenis0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000054HP:0000054Micropenis0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0000054HP:0000054Micropenis0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0000054HP:0000054Micropenis0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA127464877601802
HP:0000054HP:0000054Micropenis0HOXA13 CL E G H3209140000Hand foot uterus syndrome140000C1841679OMIM130635102142959
HP:0000054HP:0000054Micropenis0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA18335201604846
HP:0000054HP:0000054Micropenis0HS6ST1 CL E G H9394432ArbovirosisORPHA18335201604846
HP:0000054HP:0000054Micropenis0HSD3B2 CL E G H32842018103 beta-Hydroxysteroid dehydrogenase deficiency201810C0342471OMIM163925218613890
HP:0000054HP:0000054Micropenis0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000054HP:0000054Micropenis0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA1144917616606807
HP:0000054HP:0000054Micropenis0IL17RD CL E G H54756146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1144917616606807
HP:0000054HP:0000054Micropenis0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15432521474613037
HP:0000054HP:0000054Micropenis0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0000054HP:0000054Micropenis0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0000054HP:0000054Micropenis0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000054HP:0000054Micropenis0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0000054HP:0000054Micropenis0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM1229068616650
HP:0000054HP:0000054Micropenis0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000054HP:0000054Micropenis0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000054HP:0000054Micropenis0KISS1 CL E G H3814432ArbovirosisORPHA115256341603286
HP:0000054HP:0000054Micropenis0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA139784510604161
HP:0000054HP:0000054Micropenis0KISS1R CL E G H84634432ArbovirosisORPHA139784510604161
HP:0000054HP:0000054Micropenis0KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM139784510604161
HP:0000054HP:0000054Micropenis0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0000054HP:0000054Micropenis0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0000054HP:0000054Micropenis0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0000054HP:0000054Micropenis0LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM1271056553164160
HP:0000054HP:0000054Micropenis0LHB CL E G H3972228300Isolated lutropin deficiency228300C0271582OMIM114366584152780
HP:0000054HP:0000054Micropenis0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0000054HP:0000054Micropenis0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000054HP:0000054Micropenis0MAP3K1 CL E G H4214251510ORPHA1331076848600982
HP:0000054HP:0000054Micropenis0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000054HP:0000054Micropenis0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0000054HP:0000054Micropenis0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000054HP:0000054Micropenis0MYRF CL E G H745618280618280618280OMIM17321181608329
HP:0000054HP:0000054Micropenis0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0000054HP:0000054Micropenis0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000054HP:0000054Micropenis0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0000054HP:0000054Micropenis0NR0B1 CL E G H190251510ORPHA12552707960300473
HP:0000054HP:0000054Micropenis0NR5A1 CL E G H2516251510ORPHA11891057983184757
HP:0000054HP:0000054Micropenis0NR5A1 CL E G H251661748046,XX sex reversal 4617480C4479552OMIM11891057983184757
HP:0000054HP:0000054Micropenis0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA1910429843608137
HP:0000054HP:0000054Micropenis0NSMF CL E G H26012432ArbovirosisORPHA1910429843608137
HP:0000054HP:0000054Micropenis0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM1910429843608137
HP:0000054HP:0000054Micropenis0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000054HP:0000054Micropenis0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0000054HP:0000054Micropenis0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0000054HP:0000054Micropenis0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000054HP:0000054Micropenis0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0000054HP:0000054Micropenis0PHF21A CL E G H5131752022ORPHA1123524156608325
HP:0000054HP:0000054Micropenis0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000054HP:0000054Micropenis0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0000054HP:0000054Micropenis0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0000054HP:0000054Micropenis0PNPLA6 CL E G H10908245800Laurence-Moon syndrome245800C0023138OMIM16137916268603197
HP:0000054HP:0000054Micropenis0POLR3B CL E G H55703146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15812730348614366
HP:0000054HP:0000054Micropenis0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000054HP:0000054Micropenis0POR CL E G H544795699ORPHA1922259208124015
HP:0000054HP:0000054Micropenis0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000054HP:0000054Micropenis0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA1213418455607002
HP:0000054HP:0000054Micropenis0PROK2 CL E G H60675432ArbovirosisORPHA1213418455607002
HP:0000054HP:0000054Micropenis0PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM1213418455607002
HP:0000054HP:0000054Micropenis0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA1839815836607123
HP:0000054HP:0000054Micropenis0PROKR2 CL E G H128674432ArbovirosisORPHA1839815836607123
HP:0000054HP:0000054Micropenis0PROKR2 CL E G H128674244200Kallmann syndrome 3244200C2930927OMIM1839815836607123
HP:0000054HP:0000054Micropenis0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM110359557604450
HP:0000054HP:0000054Micropenis0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000054HP:0000054Micropenis0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0000054HP:0000054Micropenis0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0000054HP:0000054Micropenis0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0000054HP:0000054Micropenis0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0000054HP:0000054Micropenis0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0000054HP:0000054Micropenis0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000054HP:0000054Micropenis0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0000054HP:0000054Micropenis0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000054HP:0000054Micropenis0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000054HP:0000054Micropenis0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0000054HP:0000054Micropenis0RSPO2 CL E G H340419618021TETRAAMELIA SYNDROME 2618021CN248528OMIM124128583610575
HP:0000054HP:0000054Micropenis0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA1318210723603961
HP:0000054HP:0000054Micropenis0SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0000054HP:0000054Micropenis0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0000054HP:0000054Micropenis0SEMA3E CL E G H9723146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1416010727608166
HP:0000054HP:0000054Micropenis0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000054HP:0000054Micropenis0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1182910817603729
HP:0000054HP:0000054Micropenis0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000054HP:0000054Micropenis0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000054HP:0000054Micropenis0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000054HP:0000054Micropenis0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM112550029090614982
HP:0000054HP:0000054Micropenis0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0000054HP:0000054Micropenis0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0000054HP:0000054Micropenis0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0000054HP:0000054Micropenis0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA115119211190602229
HP:0000054HP:0000054Micropenis0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000054HP:0000054Micropenis0SOX9 CL E G H6662251510ORPHA114915511204608160
HP:0000054HP:0000054Micropenis0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA1113315533607984
HP:0000054HP:0000054Micropenis0SPRY4 CL E G H81848432ArbovirosisORPHA1113315533607984
HP:0000054HP:0000054Micropenis0SPRY4 CL E G H81848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1113315533607984
HP:0000054HP:0000054Micropenis0SRA1 CL E G H10011146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM162811281603819
HP:0000054HP:0000054Micropenis0SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM113117211285607306
HP:0000054HP:0000054Micropenis0SRY CL E G H6736251510ORPHA11099611311480000
HP:0000054HP:0000054Micropenis0SRY CL E G H67361772ORPHA11099611311480000
HP:0000054HP:0000054Micropenis0STT3A CL E G H3703370921ORPHA131066172601134
HP:0000054HP:0000054Micropenis0STT3B CL E G H201595370924ORPHA156630611608605
HP:0000054HP:0000054Micropenis0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM156630611608605
HP:0000054HP:0000054Micropenis0TAC3 CL E G H6866432ArbovirosisORPHA1101911521162330
HP:0000054HP:0000054Micropenis0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA1377911528162332
HP:0000054HP:0000054Micropenis0TACR3 CL E G H6870432ArbovirosisORPHA1377911528162332
HP:0000054HP:0000054Micropenis0TACR3 CL E G H6870614840Hypogonadotropic hypogonadism 11 with or without anosmia614840C3553844OMIM1377911528162332
HP:0000054HP:0000054Micropenis0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000054HP:0000054Micropenis0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1710216133611663
HP:0000054HP:0000054Micropenis0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0000054HP:0000054Micropenis0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM12516511602601621
HP:0000054HP:0000054Micropenis0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000054HP:0000054Micropenis0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0000054HP:0000054Micropenis0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM112828215979603273
HP:0000054HP:0000054Micropenis0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112828215979603273
HP:0000054HP:0000054Micropenis0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM1535112469314370
HP:0000054HP:0000054Micropenis0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM12619312472312180
HP:0000054HP:0000054Micropenis0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1719816808605981
HP:0000054HP:0000054Micropenis0VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0000054HP:0000054Micropenis0VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0000054HP:0000054Micropenis0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA1189113831606417
HP:0000054HP:0000054Micropenis0WDR11 CL E G H55717432ArbovirosisORPHA1189113831606417
HP:0000054HP:0000054Micropenis0WDR11 CL E G H55717146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1189113831606417
HP:0000054HP:0000054Micropenis0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0000054HP:0000054Micropenis0WT1 CL E G H7490251510ORPHA118463512796607102
HP:0000054HP:0000054Micropenis0WWOX CL E G H51741251510ORPHA15059612799605131
HP:0000054HP:0000054Micropenis0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0000054HP:0000054Micropenis0ZBTB16 CL E G H7704612447Skeletal defects, genital hypoplasia, and mental retardation612447C2676231OMIM123212930176797
HP:0000054HP:0000054Micropenis0ZFPM2 CL E G H23414251510ORPHA15214216700603693
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000054HP:0000054Micropenis0ACTA1 CL E G H58171430ORPHA0217272129102610
HP:0000054HP:0000054Micropenis0ADAR CL E G H10351ORPHA0229316225146920
HP:0000054HP:0000054Micropenis0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000054HP:0000054Micropenis0DYNC2H1 CL E G H79659613091Short-rib thoracic dysplasia 3 with or without polydactyly613091C2751311OMIM02078892962603297
HP:0000054HP:0000054Micropenis0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM01275233327130160
HP:0000054HP:0000054Micropenis0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0000054HP:0000054Micropenis0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0000054HP:0000054Micropenis0IFIH1 CL E G H6413551ORPHA02828618873606951
HP:0000054HP:0000054Micropenis0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0000054HP:0000054Micropenis0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM0123229239610621
HP:0000054HP:0000054Micropenis0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000054HP:0000054Micropenis0KLHL40 CL E G H131377171430ORPHA02619030372615340
HP:0000054HP:0000054Micropenis0KLHL41 CL E G H10324171430ORPHA099816905607701
HP:0000054HP:0000054Micropenis0LMOD3 CL E G H56203171430ORPHA0181686649616112
HP:0000054HP:0000054Micropenis0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM0192253233604267
HP:0000054HP:0000054Micropenis0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM0619712744605678
HP:0000054HP:0000054Micropenis0NEB CL E G H4703171430ORPHA032130107720161650
HP:0000054HP:0000054Micropenis0NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM0303117744604588
HP:0000054HP:0000054Micropenis0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM078988522600037
HP:0000054HP:0000054Micropenis0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM0115749413600899
HP:0000054HP:0000054Micropenis0RNASEH2A CL E G H1053551ORPHA02113318518606034
HP:0000054HP:0000054Micropenis0RNASEH2B CL E G H7962151ORPHA04214925671610326
HP:0000054HP:0000054Micropenis0RNASEH2C CL E G H8415351ORPHA01511224116610330
HP:0000054HP:0000054Micropenis0RYR1 CL E G H626198905ORPHA0688309410483180901
HP:0000054HP:0000054Micropenis0SAMHD1 CL E G H2593951ORPHA05720015925606754
HP:0000054HP:0000054Micropenis0SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0000054HP:0000054Micropenis0SLC29A3 CL E G H55315168569ORPHA02619023096612373
HP:0000054HP:0000054Micropenis0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM02516129529608628
HP:0000054HP:0000054Micropenis0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA014862411634602272
HP:0000054HP:0000054Micropenis0TREX1 CL E G H1127751ORPHA07115312269606609


Genes (191) :ACTA1 ACTB ADAR ALG12 ALX4 ANOS1 AR ARCN1 ARX ATP6V1A ATRX AXL B4GAT1 B9D2 BBS1 BMP4 BUB1B C2CD3 CCDC141 CDC45 CDC6 CDH11 CDKN1C CEP41 CHD4 CHD7 COLEC10 COX7B CTU2 CUL4B CYB5A CYP17A1 DCAF17 DCC DCX DHCR7 DHDDS DHODH DMRT3 DUSP6 DVL1 DVL3 DYNC2H1 EBF3 ECE1 EHMT1 EIF2S3 ELN ERCC2 ERCC6 ERCC8 EXT2 FAM111A FANCL FAT4 FEZF1 FGF17 FGF8 FGFR1 FIG4 FLRT3 FRAS1 FZD2 GATA4 GLI2 GLI3 GNRH1 GNRHR HCCS HDAC8 HERC2 HESX1 HOXA13 HS6ST1 HSD3B2 ICK IFIH1 IL17RD INPP5E INTU IPW KAT6B KDM5C KDM6A KIAA0556 KIAA0586 KIAA1109 KIF7 KISS1 KISS1R KLHL15 KLHL40 KLHL41 KMT2D LAS1L LEP LHB LMOD3 MAGEL2 MAP3K1 MCTP2 MEGF8 MKRN3 MKRN3-AS1 MLXIPL MYRF NDN NDUFB11 NEB NEK1 NPAP1 NR0B1 NR5A1 NSMF OFD1 OPHN1 ORC1 ORC6 OTX2 PBX1 PHF21A PHF6 PIEZO2 PIGA PNPLA6 POLR3B POMT2 POR PRKDC PROK2 PROKR2 PSMD12 PTPN11 PWAR1 PWRN1 RAB18 RAB3GAP2 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNU4ATAC ROR2 RSPO2 RYR1 SAMHD1 SEMA3A SEMA3E SETBP1 SGPL1 SIN3A SIX6 SLC25A24 SLC29A3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN SOX10 SOX2 SOX9 SPRY4 SRA1 SRD5A2 SRY STT3A STT3B TAC3 TACR3 TAPT1 TBC1D20 TBCE TBL1XR1 TBX3 TCF4 TOE1 TP63 TREX1 UBA1 UBE2A UBR1 VAC14 VAMP7 WDR11 WNT5A WT1 WWOX XRCC4 ZBTB16 ZFPM2

Diseases (156) :171430 243310 51 607143 52022 478 432 308700 90797 312300 617164 300215 617403 301040 309580 146110 615287 614175 209900 607932 257300 615948 617063 613805 1299 614732 614464 617159 138 214800 248340 309801 618142 300354 90796 250790 90793 3464 241080 300067 270400 613861 263750 251510 180700 616331 613091 617330 613870 610253 85282 300148 194050 610756 133540 216400 602361 614083 615546 616030 612702 615465 147950 3472 216340 219000 164745 615542 615849 610829 672 146510 300882 176270 140000 201810 612651 610156 617926 617925 606170 300534 147920 616784 616546 617822 200990 614837 300982 309585 614962 228300 615547 1596 614976 618280 263520 617480 614838 300209 300486 224690 613803 610125 617641 301900 248700 300868 245800 613156 95699 201750 615966 610628 244200 617516 151100 614222 212720 614225 300978 300953 210710 268310 113000 618021 98905 798 269150 617575 613406 206900 612289 168569 603457 264600 1772 370921 370924 615597 614840 616897 615663 241410 602342 181450 2896 610954 614969 604292 106260 301830 300860 243800 616541 612447
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.