Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal penis morphology (HP:0000036)help
Grandparent Node:
expand
Hypoplastic male external genitalia (HP:0000050)help
Parent Node:
expand
Hypoplasia of penis (HP:0008736)help
..Starting node
..expand
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000054HP:0000054Micropenis0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0000054HP:0000054Micropenis0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000054HP:0000054Micropenis0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0000054HP:0000054Micropenis0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000054HP:0000054Micropenis0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000054HP:0000054Micropenis0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000054HP:0000054Micropenis0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000054HP:0000054Micropenis0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0000054HP:0000054Micropenis0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040282 - Frequent132
HP:0000054HP:0000054Micropenis0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0000054HP:0000054Micropenis0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0000054HP:0000054Micropenis0AR CL E G H367644ORPHA:95706Non-syndromic posterior hypospadiasHP:0040283 - Occasional125
HP:0000054HP:0000054Micropenis0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0000054HP:0000054Micropenis0AR CL E G H367644OMIM:312300Reifenstein syndrome.125
HP:0000054HP:0000054Micropenis0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000054HP:0000054Micropenis0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000054HP:0000054Micropenis0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0000054HP:0000054Micropenis0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0000054HP:0000054Micropenis0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0000054HP:0000054Micropenis0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0000054HP:0000054Micropenis0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000054HP:0000054Micropenis0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000054HP:0000054Micropenis0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000054HP:0000054Micropenis0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000054HP:0000054Micropenis0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0000054HP:0000054Micropenis0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0000054HP:0000054Micropenis0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000054HP:0000054Micropenis0BBS5 CL E G H129880970OMIM:615983Bardet-Biedl syndrome 525
HP:0000054HP:0000054Micropenis0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000054HP:0000054Micropenis0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000054HP:0000054Micropenis0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000054HP:0000054Micropenis0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000054HP:0000054Micropenis0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0000054HP:0000054Micropenis0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000054HP:0000054Micropenis0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0000054HP:0000054Micropenis0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000054HP:0000054Micropenis0CDC42BPB CL E G H95781738OMIM:619841
HP:0000054HP:0000054Micropenis0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0000054HP:0000054Micropenis0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0000054HP:0000054Micropenis0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000054HP:0000054Micropenis0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000054HP:0000054Micropenis0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0000054HP:0000054Micropenis0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0000054HP:0000054Micropenis0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000054HP:0000054Micropenis0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0000054HP:0000054Micropenis0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000054HP:0000054Micropenis0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000054HP:0000054Micropenis0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0000054HP:0000054Micropenis0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0000054HP:0000054Micropenis0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0000054HP:0000054Micropenis0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0000054HP:0000054Micropenis0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0000054HP:0000054Micropenis0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0000054HP:0000054Micropenis0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000054HP:0000054Micropenis0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000054HP:0000054Micropenis0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000054HP:0000054Micropenis0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0000054HP:0000054Micropenis0CYB5A CL E G H15282570OMIM:250790Methemoglobinemia and ambiguous genitalia.2
HP:0000054HP:0000054Micropenis0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0000054HP:0000054Micropenis0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0000054HP:0000054Micropenis0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000054HP:0000054Micropenis0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0000054HP:0000054Micropenis0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0000054HP:0000054Micropenis0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0000054HP:0000054Micropenis0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000054HP:0000054Micropenis0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000054HP:0000054Micropenis0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0000054HP:0000054Micropenis0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0000054HP:0000054Micropenis0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000054HP:0000054Micropenis0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0000054HP:0000054Micropenis0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0000054HP:0000054Micropenis0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000054HP:0000054Micropenis0DTYMK CL E G H18413061OMIM:619847
HP:0000054HP:0000054Micropenis0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0000054HP:0000054Micropenis0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0000054HP:0000054Micropenis0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0000054HP:0000054Micropenis0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000054HP:0000054Micropenis0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000054HP:0000054Micropenis0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000054HP:0000054Micropenis0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0000054HP:0000054Micropenis0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0000054HP:0000054Micropenis0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0000054HP:0000054Micropenis0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000054HP:0000054Micropenis0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13
HP:0000054HP:0000054Micropenis0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000054HP:0000054Micropenis0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000054HP:0000054Micropenis0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040281 - Very frequent8
HP:0000054HP:0000054Micropenis0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000054HP:0000054Micropenis0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0000054HP:0000054Micropenis0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000054HP:0000054Micropenis0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000054HP:0000054Micropenis0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040282 - Frequent102
HP:0000054HP:0000054Micropenis0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0000054HP:0000054Micropenis0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0000054HP:0000054Micropenis0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000054HP:0000054Micropenis0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0000054HP:0000054Micropenis0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000054HP:0000054Micropenis0FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia.2
HP:0000054HP:0000054Micropenis0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0000054HP:0000054Micropenis0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0000054HP:0000054Micropenis0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0000054HP:0000054Micropenis0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0000054HP:0000054Micropenis0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000054HP:0000054Micropenis0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia.17
HP:0000054HP:0000054Micropenis0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0000054HP:0000054Micropenis0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0000054HP:0000054Micropenis0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0000054HP:0000054Micropenis0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000054HP:0000054Micropenis0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000054HP:0000054Micropenis0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0000054HP:0000054Micropenis0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0000054HP:0000054Micropenis0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000054HP:0000054Micropenis0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0000054HP:0000054Micropenis0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0000054HP:0000054Micropenis0GATA4 CL E G H26264173OMIM:615542Testicular anomalies with or without congenital heart disease.87
HP:0000054HP:0000054Micropenis0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome.173
HP:0000054HP:0000054Micropenis0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0000054HP:0000054Micropenis0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000054HP:0000054Micropenis0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome.270
HP:0000054HP:0000054Micropenis0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0000054HP:0000054Micropenis0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0000054HP:0000054Micropenis0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0000054HP:0000054Micropenis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000054HP:0000054Micropenis0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0000054HP:0000054Micropenis0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0000054HP:0000054Micropenis0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0000054HP:0000054Micropenis0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0000054HP:0000054Micropenis0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0000054HP:0000054Micropenis0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000054HP:0000054Micropenis0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0000054HP:0000054Micropenis0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0000054HP:0000054Micropenis0H4C9 CL E G H82944793OMIM:619951
HP:0000054HP:0000054Micropenis0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0000054HP:0000054Micropenis0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0000054HP:0000054Micropenis0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000054HP:0000054Micropenis0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000054HP:0000054Micropenis0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0000054HP:0000054Micropenis0HID1 CL E G H28398715736OMIM:619983
HP:0000054HP:0000054Micropenis0HNRNPR CL E G H102365047OMIM:620073
HP:0000054HP:0000054Micropenis0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0000054HP:0000054Micropenis0HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia.8
HP:0000054HP:0000054Micropenis0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0000054HP:0000054Micropenis0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0000054HP:0000054Micropenis0HSD3B2 CL E G H32845218OMIM:201810Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.34
HP:0000054HP:0000054Micropenis0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000054HP:0000054Micropenis0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0000054HP:0000054Micropenis0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000054HP:0000054Micropenis0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0000054HP:0000054Micropenis0INPP5E CL E G H5662321474OMIM:610156Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome.111
HP:0000054HP:0000054Micropenis0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040281 - Very frequent111
HP:0000054HP:0000054Micropenis0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000054HP:0000054Micropenis0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000054HP:0000054Micropenis0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000054HP:0000054Micropenis0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000054HP:0000054Micropenis0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0000054HP:0000054Micropenis0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0000054HP:0000054Micropenis0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000054HP:0000054Micropenis0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000054HP:0000054Micropenis0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0000054HP:0000054Micropenis0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000054HP:0000054Micropenis0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000054HP:0000054Micropenis0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000054HP:0000054Micropenis0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia.14
HP:0000054HP:0000054Micropenis0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0000054HP:0000054Micropenis0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0000054HP:0000054Micropenis0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000054HP:0000054Micropenis0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0000054HP:0000054Micropenis0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0000054HP:0000054Micropenis0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000054HP:0000054Micropenis0LAMA5 CL E G H39116485OMIM:6200765
HP:0000054HP:0000054Micropenis0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0000054HP:0000054Micropenis0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction.47
HP:0000054HP:0000054Micropenis0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0000054HP:0000054Micropenis0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0000054HP:0000054Micropenis0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0000054HP:0000054Micropenis0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0000054HP:0000054Micropenis0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0000054HP:0000054Micropenis0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000054HP:0000054Micropenis0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000054HP:0000054Micropenis0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000054HP:0000054Micropenis0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000054HP:0000054Micropenis0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000054HP:0000054Micropenis0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000054HP:0000054Micropenis0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000054HP:0000054Micropenis0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000054HP:0000054Micropenis0MAMLD1 CL E G H100462568ORPHA:95706Non-syndromic posterior hypospadiasHP:0040283 - Occasional5
HP:0000054HP:0000054Micropenis0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0000054HP:0000054Micropenis0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000054HP:0000054Micropenis0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000054HP:0000054Micropenis0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000054HP:0000054Micropenis0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000054HP:0000054Micropenis0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000054HP:0000054Micropenis0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0000054HP:0000054Micropenis0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0000054HP:0000054Micropenis0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000054HP:0000054Micropenis0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000054HP:0000054Micropenis0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000054HP:0000054Micropenis0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185
HP:0000054HP:0000054Micropenis0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome.2
HP:0000054HP:0000054Micropenis0NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000054HP:0000054Micropenis0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0000054HP:0000054Micropenis0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0000054HP:0000054Micropenis0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0000054HP:0000054Micropenis0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactylyHP:0040283 - Occasional101
HP:0000054HP:0000054Micropenis0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare
HP:0000054HP:0000054Micropenis0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000054HP:0000054Micropenis0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000054HP:0000054Micropenis0NR5A1 CL E G H25167983OMIM:61748046,xx sex reversal 4.38
HP:0000054HP:0000054Micropenis0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000054HP:0000054Micropenis0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0000054HP:0000054Micropenis0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000054HP:0000054Micropenis0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000054HP:0000054Micropenis0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.55
HP:0000054HP:0000054Micropenis0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000054HP:0000054Micropenis0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000054HP:0000054Micropenis0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000054HP:0000054Micropenis0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5HP:0040283 - Occasional41
HP:0000054HP:0000054Micropenis0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000054HP:0000054Micropenis0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040282 - Frequent2
HP:0000054HP:0000054Micropenis0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0000054HP:0000054Micropenis0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000054HP:0000054Micropenis0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000054HP:0000054Micropenis0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare2
HP:0000054HP:0000054Micropenis0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0000054HP:0000054Micropenis0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare244
HP:0000054HP:0000054Micropenis0PNPLA6 CL E G H1090816268OMIM:245800Laurence-Moon syndrome.103
HP:0000054HP:0000054Micropenis0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyHP:0040284 - Very rare1129
HP:0000054HP:0000054Micropenis0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0000054HP:0000054Micropenis0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0000054HP:0000054Micropenis0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0000054HP:0000054Micropenis0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000054HP:0000054Micropenis0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000054HP:0000054Micropenis0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000054HP:0000054Micropenis0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0000054HP:0000054Micropenis0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0000054HP:0000054Micropenis0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia.9
HP:0000054HP:0000054Micropenis0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0000054HP:0000054Micropenis0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0000054HP:0000054Micropenis0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0000054HP:0000054Micropenis0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0000054HP:0000054Micropenis0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000054HP:0000054Micropenis0PSMC1 CL E G H57009547OMIM:6200711
HP:0000054HP:0000054Micropenis0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000054HP:0000054Micropenis0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000054HP:0000054Micropenis0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000054HP:0000054Micropenis0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000054HP:0000054Micropenis0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000054HP:0000054Micropenis0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000054HP:0000054Micropenis0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000054HP:0000054Micropenis0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000054HP:0000054Micropenis0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000054HP:0000054Micropenis0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0000054HP:0000054Micropenis0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0000054HP:0000054Micropenis0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0000054HP:0000054Micropenis0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0000054HP:0000054Micropenis0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000054HP:0000054Micropenis0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000054HP:0000054Micropenis0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000054HP:0000054Micropenis0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0000054HP:0000054Micropenis0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000054HP:0000054Micropenis0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2.
HP:0000054HP:0000054Micropenis0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0000054HP:0000054Micropenis0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0000054HP:0000054Micropenis0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000054HP:0000054Micropenis0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare126
HP:0000054HP:0000054Micropenis0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare427
HP:0000054HP:0000054Micropenis0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia.14
HP:0000054HP:0000054Micropenis0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0000054HP:0000054Micropenis0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0000054HP:0000054Micropenis0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0000054HP:0000054Micropenis0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000054HP:0000054Micropenis0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0000054HP:0000054Micropenis0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000054HP:0000054Micropenis0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare11
HP:0000054HP:0000054Micropenis0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0000054HP:0000054Micropenis0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000054HP:0000054Micropenis0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0000054HP:0000054Micropenis0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000054HP:0000054Micropenis0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0000054HP:0000054Micropenis0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000054HP:0000054Micropenis0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000054HP:0000054Micropenis0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0000054HP:0000054Micropenis0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000054HP:0000054Micropenis0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000054HP:0000054Micropenis0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0000054HP:0000054Micropenis0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000054HP:0000054Micropenis0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000054HP:0000054Micropenis0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0000054HP:0000054Micropenis0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0000054HP:0000054Micropenis0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0000054HP:0000054Micropenis0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000054HP:0000054Micropenis0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000054HP:0000054Micropenis0SRD5A2 CL E G H671611285OMIM:264600Pseudovaginal perineoscrotal hypospadias.86
HP:0000054HP:0000054Micropenis0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040282 - Frequent23
HP:0000054HP:0000054Micropenis0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000054HP:0000054Micropenis0STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040282 - Frequent21
HP:0000054HP:0000054Micropenis0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0000054HP:0000054Micropenis0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040282 - Frequent18
HP:0000054HP:0000054Micropenis0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0000054HP:0000054Micropenis0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000054HP:0000054Micropenis0TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia.34
HP:0000054HP:0000054Micropenis0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0000054HP:0000054Micropenis0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000054HP:0000054Micropenis0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000054HP:0000054Micropenis0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000054HP:0000054Micropenis0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000054HP:0000054Micropenis0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndromeHP:0040283 - Occasional22
HP:0000054HP:0000054Micropenis0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0000054HP:0000054Micropenis0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000054HP:0000054Micropenis0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0000054HP:0000054Micropenis0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000054HP:0000054Micropenis0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000054HP:0000054Micropenis0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0000054HP:0000054Micropenis0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional6
HP:0000054HP:0000054Micropenis0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0000054HP:0000054Micropenis0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000054HP:0000054Micropenis0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000054HP:0000054Micropenis0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000054HP:0000054Micropenis0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0000054HP:0000054Micropenis0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare1
HP:0000054HP:0000054Micropenis0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0000054HP:0000054Micropenis0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0000054HP:0000054Micropenis0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000054HP:0000054Micropenis0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0000054HP:0000054Micropenis0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0000054HP:0000054Micropenis0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000054HP:0000054Micropenis0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000054HP:0000054Micropenis0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome.2
HP:0000054HP:0000054Micropenis0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000054HP:0000054Micropenis0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000054HP:0000054Micropenis0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0000054HP:0000054Micropenis0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0000054HP:0000054Micropenis0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0000054HP:0000054Micropenis0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000054HP:0000054Micropenis0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0000054HP:0000054Micropenis0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0000054HP:0000054Micropenis0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0000054HP:0000054Micropenis0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040284 - Very rare362
HP:0000054HP:0000054Micropenis0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040284 - Very rare362
HP:0000054HP:0000054Micropenis0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0000054HP:0000054Micropenis0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF


Genes (270) :ACTA1 ACTB ADAR ADAT3 ALG12 ALKBH8 ALMS1 ALX4 ANOS1 AR ARCN1 ARL6 ARX ATAD3A ATP6V1A ATRX AXL B4GAT1 B9D2 BBS1 BBS5 BLTP1 BUB1B C2CD3 CAMK2A CASK CCDC141 CCDC28B CDC42BPB CDC45 CDC6 CDH11 CDH2 CDKL5 CDKN1C CENPT CEP41 CHD4 CHD7 COG5 COLEC10 COX7B CPE CTU2 CUL4B CYB5A CYP17A1 DCAF17 DCC DCX DDX6 DHCR7 DHDDS DHODH DHX37 DMRT3 DMXL2 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYRK1A EBF3 ECE1 EHMT1 EIF2S3 ELN ERCC2 ERCC6 ERCC8 EXT2 FAM111A FANCB FANCD2 FANCL FAT4 FEZF1 FGF17 FGF8 FGFR1 FIG4 FKRP FLRT3 FRAS1 FZD2 GATA4 GLI2 GLI3 GLYCTK GMPPB GNAO1 GNB2 GNRH1 GNRHR GRIA3 GRIN1 GRM7 H4C9 HCCS HDAC8 HERC1 HERC2 HESX1 HID1 HNRNPR HOXA13 HS6ST1 HSD3B2 HUWE1 IFIH1 IFT172 IL17RD INPP5E INTU IPW KAT6B KATNIP KCNA1 KDM5C KDM6A KIAA0586 KIAA0753 KIF7 KISS1 KISS1R KLF1 KLHL15 KLHL40 KLHL41 KMT2D LAMA5 LARGE1 LEP LHB LIG4 LMNB2 LMOD3 LMX1B LSM11 LSS LZTFL1 MADD MAGEL2 MAMLD1 MAP3K1 MBD5 MCTP2 MED12 MEGF8 MID1 MINPP1 MKRN3 MKRN3-AS1 MLXIPL MTM1 MYRF NDNF NDUFB11 NEB NEK1 NEUROD2 NPAP1 NR0B1 NR5A1 NSMF OFD1 OPHN1 ORC1 ORC6 OTUD5 OTX2 PBX1 PHF21A PHF6 PIEZO2 PIGA PIGP PIGQ PNKP PNPLA6 POLE POMT1 POMT2 POR PPP1R12A PRDM13 PRKDC PROK2 PROKR2 PSMC1 PSMD12 PTPN11 PWAR1 PWRN1 RAB18 RAB3GAP2 RIPK4 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNU4ATAC RNU7-1 ROR2 RSPO2 RYR1 SAMHD1 SATB2 SCN1B SCN2A SEMA3A SEMA3E SETBP1 SGPL1 SIK1 SIM1 SIX6 SLC25A22 SLC25A24 SLC29A3 SMCHD1 SMO SNORD115-1 SNORD116-1 SOX10 SOX2 SOX9 SPRY4 SPTBN1 SRA1 SRD5A2 SRY STT3A STT3B STXBP1 TAC3 TACR3 TAPT1 TBC1D20 TBCE TBL1XR1 TBX3 TCF12 TCF4 THOC2 THOC6 TOE1 TOGARAM1 TP63 TREX1 TRIM8 TWIST2 UBA1 UBE2A UBR1 UBR7 USP7 VAC14 VAMP7 WDR11 WNT5A WT1 WWOX XRCC4 ZEB2 ZFPM2 ZPR1

Diseases (229) :ORPHA:171430 OMIM:243310 ORPHA:51 ORPHA:363528 ORPHA:79324 OMIM:607143 OMIM:618504 ORPHA:64 ORPHA:52022 OMIM:308700 ORPHA:478 ORPHA:95706 ORPHA:90797 OMIM:312300 OMIM:617164 OMIM:209900 OMIM:308350 ORPHA:1934 OMIM:300215 OMIM:618810 OMIM:617403 OMIM:301040 OMIM:309580 OMIM:146110 OMIM:615287 OMIM:614175 OMIM:615983 OMIM:617822 OMIM:257300 OMIM:615948 OMIM:617798 OMIM:619841 OMIM:617063 OMIM:613805 ORPHA:1299 OMIM:618929 OMIM:614732 OMIM:618702 OMIM:614464 OMIM:617159 OMIM:214800 ORPHA:138 ORPHA:432 ORPHA:263487 OMIM:248340 OMIM:309801 OMIM:619326 OMIM:618142 OMIM:300354 ORPHA:90796 OMIM:250790 ORPHA:90793 OMIM:241080 ORPHA:3464 OMIM:300067 OMIM:618653 OMIM:270400 OMIM:613861 OMIM:263750 ORPHA:251510 OMIM:619435 OMIM:619847 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:613091 ORPHA:268261 ORPHA:464311 OMIM:617330 OMIM:613870 OMIM:610253 OMIM:300148 ORPHA:85282 OMIM:194050 OMIM:610756 OMIM:133540 OMIM:216400 OMIM:602361 OMIM:300514 OMIM:227646 OMIM:614083 OMIM:615546 OMIM:616030 OMIM:612702 OMIM:615465 OMIM:147950 OMIM:216340 ORPHA:3472 ORPHA:370968 OMIM:219000 OMIM:164745 OMIM:615542 OMIM:615849 OMIM:610829 ORPHA:672 OMIM:146510 OMIM:220120 OMIM:619503 OMIM:614841 ORPHA:364028 OMIM:619951 OMIM:300882 ORPHA:457359 OMIM:176270 OMIM:619983 OMIM:620073 OMIM:140000 OMIM:614880 OMIM:201810 OMIM:309590 OMIM:619471 OMIM:610156 ORPHA:75858 OMIM:617926 OMIM:617925 OMIM:606170 OMIM:616784 OMIM:300534 OMIM:147920 OMIM:616546 OMIM:619479 OMIM:200990 OMIM:614837 OMIM:613673 OMIM:300982 OMIM:620076 OMIM:614962 OMIM:228300 OMIM:606593 OMIM:619180 ORPHA:495818 OMIM:618840 OMIM:615994 OMIM:619004 OMIM:619005 ORPHA:398069 OMIM:615547 ORPHA:456328 OMIM:156200 ORPHA:1596 OMIM:300895 OMIM:614976 OMIM:300000 ORPHA:284339 OMIM:618280 OMIM:618841 OMIM:263520 OMIM:617480 OMIM:614838 OMIM:300209 OMIM:300486 OMIM:224690 OMIM:613803 OMIM:301056 OMIM:610125 OMIM:617641 OMIM:301900 OMIM:248700 OMIM:300868 OMIM:245800 OMIM:618336 OMIM:613156 OMIM:201750 ORPHA:95699 OMIM:618820 OMIM:619761 OMIM:615966 OMIM:610628 OMIM:244200 OMIM:620071 OMIM:617516 OMIM:151100 OMIM:614222 OMIM:212720 OMIM:614225 OMIM:263650 OMIM:300978 OMIM:300953 OMIM:210710 OMIM:619487 OMIM:113000 OMIM:268310 OMIM:618021 ORPHA:98905 ORPHA:251028 OMIM:614897 OMIM:269150 ORPHA:798 OMIM:617575 ORPHA:398079 OMIM:206900 OMIM:612289 ORPHA:168569 OMIM:602782 OMIM:603457 OMIM:241800 OMIM:619475 OMIM:264600 ORPHA:1772 ORPHA:370921 OMIM:615597 ORPHA:370924 OMIM:614840 OMIM:616897 OMIM:615663 OMIM:241410 OMIM:602342 OMIM:181450 OMIM:619718 ORPHA:2896 OMIM:610954 ORPHA:457240 ORPHA:363444 OMIM:614969 OMIM:619185 OMIM:106260 OMIM:604292 OMIM:200110 OMIM:301830 OMIM:300860 ORPHA:163956 OMIM:243800 OMIM:619189 ORPHA:500055 OMIM:616863 OMIM:616541 ORPHA:261552 ORPHA:261537 OMIM:619321
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.