Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the kidney (HP:0000077)help
Parent Node:
expand
Abnormal renal morphology (HP:0012210)help
..Starting node
..expand
Renal hypoplasia/aplasia (HP:0008678)help
Term ID: 8678
Name: Renal hypoplasia/aplasia
Synonym: Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia
Definition: Absence or underdevelopment of the kidney.
Comments:
Reference: HP:0008678
Genes and Diseases:
 
       Child Nodes:
........expandRenal hypoplasia (HP:0000089) help
................... HP:0012583 Unilateral renal hypoplasia
................... HP:0012584 Bilateral renal hypoplasia
........expandRenal agenesis (HP:0000104) help
................... HP:0000122 Unilateral renal agenesis
................... HP:0010958 Bilateral renal agenesis

 Sister Nodes: 
..expandAbnormal localization of kidney (HP:0100542) help
..expandAbnormal nephron morphology (HP:0012575) help
..expandAbnormal renal artery morphology (HP:0008776) help
..expandAbnormal renal calyx morphology (HP:0011130) help
..expandAbnormal renal collecting system morphology (HP:0004742) help
..expandAbnormal renal cortex morphology (HP:0011035) help
..expandAbnormal renal medulla morphology (HP:0100957) help
..expandAbnormal renal pelvis morphology (HP:0010944) help
..expandDecreased renal parenchymal thickness (HP:0025327) help
..expandEnlarged kidney (HP:0000105) help
..expandHyperechogenic kidneys (HP:0004719) help
..expandNephrocalcinosis (HP:0000121) help
..expandNephrogenic rest (HP:0100880) help
..expandNephrolithiasis (HP:0000787) help
..expandNephrosclerosis (HP:0009741) help
..expandPerinephric fluid collection (HP:0031226) help
..expandPerirenal hematoma (HP:0030171) help
..expandRenal amyloidosis (HP:0001917) help
..expandRenal atrophy (HP:0012585) help
..expandRenal cyst (HP:0000107) help
..expandRenal duplication (HP:0000075) help
..expandRenal dysplasia (HP:0000110) help
..expandRenal fibrosis (HP:0030760) help
..expandRenal malrotation (HP:0004712) help
..expandRenal steatosis (HP:0000799) 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:0008678HP:0008678Renal hypoplasia/aplasia0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0008678HP:0008678Renal hypoplasia/aplasia0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0008678HP:0008678Renal hypoplasia/aplasia0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0008678HP:0008678Renal hypoplasia/aplasia0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 389
HP:0008678HP:0008678Renal hypoplasia/aplasia0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0008678HP:0008678Renal hypoplasia/aplasia0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephaly3
HP:0008678HP:0008678Renal hypoplasia/aplasia0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0008678HP:0008678Renal hypoplasia/aplasia0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0008678HP:0008678Renal hypoplasia/aplasia0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0008678HP:0008678Renal hypoplasia/aplasia0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0008678HP:0008678Renal hypoplasia/aplasia0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0008678HP:0008678Renal hypoplasia/aplasia0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0008678HP:0008678Renal hypoplasia/aplasia0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040283 - Occasional166
HP:0008678HP:0008678Renal hypoplasia/aplasia0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephaly512
HP:0008678HP:0008678Renal hypoplasia/aplasia0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0008678HP:0008678Renal hypoplasia/aplasia0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0008678HP:0008678Renal hypoplasia/aplasia0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0008678HP:0008678Renal hypoplasia/aplasia0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0008678HP:0008678Renal hypoplasia/aplasia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0008678HP:0008678Renal hypoplasia/aplasia0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0008678HP:0008678Renal hypoplasia/aplasia0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0008678HP:0008678Renal hypoplasia/aplasia0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0008678HP:0008678Renal hypoplasia/aplasia0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0008678HP:0008678Renal hypoplasia/aplasia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0008678HP:0008678Renal hypoplasia/aplasia0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0008678HP:0008678Renal hypoplasia/aplasia0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0008678HP:0008678Renal hypoplasia/aplasia0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0008678HP:0008678Renal hypoplasia/aplasia0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0008678HP:0008678Renal hypoplasia/aplasia0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0008678HP:0008678Renal hypoplasia/aplasia0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0008678HP:0008678Renal hypoplasia/aplasia0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0008678HP:0008678Renal hypoplasia/aplasia0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephaly181
HP:0008678HP:0008678Renal hypoplasia/aplasia0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephaly6
HP:0008678HP:0008678Renal hypoplasia/aplasia0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0008678HP:0008678Renal hypoplasia/aplasia0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0008678HP:0008678Renal hypoplasia/aplasia0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephaly161
HP:0008678HP:0008678Renal hypoplasia/aplasia0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0008678HP:0008678Renal hypoplasia/aplasia0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephaly38
HP:0008678HP:0008678Renal hypoplasia/aplasia0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephaly146
HP:0008678HP:0008678Renal hypoplasia/aplasia0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0008678HP:0008678Renal hypoplasia/aplasia0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephaly31
HP:0008678HP:0008678Renal hypoplasia/aplasia0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0008678HP:0008678Renal hypoplasia/aplasia0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0008678HP:0008678Renal hypoplasia/aplasia0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephaly15
HP:0008678HP:0008678Renal hypoplasia/aplasia0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive15
HP:0008678HP:0008678Renal hypoplasia/aplasia0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0008678HP:0008678Renal hypoplasia/aplasia0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0008678HP:0008678Renal hypoplasia/aplasia0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0008678Renal hypoplasia/aplasia0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0008678HP:0008678Renal hypoplasia/aplasia0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0008678HP:0008678Renal hypoplasia/aplasia0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0008678HP:0008678Renal hypoplasia/aplasia0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0008678HP:0008678Renal hypoplasia/aplasia0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0008678HP:0008678Renal hypoplasia/aplasia0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0008678HP:0008678Renal hypoplasia/aplasia0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0008678HP:0008678Renal hypoplasia/aplasia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0008678HP:0008678Renal hypoplasia/aplasia0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional33
HP:0008678HP:0008678Renal hypoplasia/aplasia0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040283 - Occasional72
HP:0008678HP:0008678Renal hypoplasia/aplasia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0008678HP:0008678Renal hypoplasia/aplasia0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0008678HP:0008678Renal hypoplasia/aplasia0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0008678HP:0008678Renal hypoplasia/aplasia0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0008678HP:0008678Renal hypoplasia/aplasia0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0008678HP:0008678Renal hypoplasia/aplasia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0008678HP:0008678Renal hypoplasia/aplasia0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0008678HP:0008678Renal hypoplasia/aplasia0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0008678HP:0008678Renal hypoplasia/aplasia0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0008678HP:0008678Renal hypoplasia/aplasia0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional7
HP:0008678HP:0008678Renal hypoplasia/aplasia0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0008678HP:0008678Renal hypoplasia/aplasia0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0008678HP:0008678Renal hypoplasia/aplasia0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0008678HP:0008678Renal hypoplasia/aplasia0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008678HP:0008678Renal hypoplasia/aplasia0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008678HP:0008678Renal hypoplasia/aplasia0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0008678HP:0008678Renal hypoplasia/aplasia0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0008678HP:0008678Renal hypoplasia/aplasia0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0008678HP:0008678Renal hypoplasia/aplasia0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional209
HP:0008678HP:0008678Renal hypoplasia/aplasia0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional137
HP:0008678HP:0008678Renal hypoplasia/aplasia0EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040282 - Frequent135
HP:0008678HP:0008678Renal hypoplasia/aplasia0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0008678HP:0008678Renal hypoplasia/aplasia0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040283 - Occasional135
HP:0008678HP:0008678Renal hypoplasia/aplasia0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040281 - Very frequent58
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0008678HP:0008678Renal hypoplasia/aplasia0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0008678HP:0008678Renal hypoplasia/aplasia0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0008678HP:0008678Renal hypoplasia/aplasia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0008678HP:0008678Renal hypoplasia/aplasia0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0008678HP:0008678Renal hypoplasia/aplasia0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0008678HP:0008678Renal hypoplasia/aplasia0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateral2
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0008678HP:0008678Renal hypoplasia/aplasia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0008678HP:0008678Renal hypoplasia/aplasia0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional
HP:0008678HP:0008678Renal hypoplasia/aplasia0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0008678HP:0008678Renal hypoplasia/aplasia0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0008678HP:0008678Renal hypoplasia/aplasia0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0008678HP:0008678Renal hypoplasia/aplasia0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0008678HP:0008678Renal hypoplasia/aplasia0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0008678HP:0008678Renal hypoplasia/aplasia0FREM1 CL E G H15832623399ORPHA:217266BNAR syndrome198
HP:0008678HP:0008678Renal hypoplasia/aplasia0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0008678HP:0008678Renal hypoplasia/aplasia0FREM2 CL E G H34164025396OMIM:617666Fraser syndrome 2263
HP:0008678HP:0008678Renal hypoplasia/aplasia0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0008678HP:0008678Renal hypoplasia/aplasia0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0008678HP:0008678Renal hypoplasia/aplasia0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0008678HP:0008678Renal hypoplasia/aplasia0GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome83
HP:0008678HP:0008678Renal hypoplasia/aplasia0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040283 - Occasional7
HP:0008678HP:0008678Renal hypoplasia/aplasia0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040283 - Occasional64
HP:0008678HP:0008678Renal hypoplasia/aplasia0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0008678HP:0008678Renal hypoplasia/aplasia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0008678HP:0008678Renal hypoplasia/aplasia0GFRA1 CL E G H26744243OMIM:6198871
HP:0008678HP:0008678Renal hypoplasia/aplasia0GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateral1
HP:0008678HP:0008678Renal hypoplasia/aplasia0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional1
HP:0008678HP:0008678Renal hypoplasia/aplasia0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0008678HP:0008678Renal hypoplasia/aplasia0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0008678HP:0008678Renal hypoplasia/aplasia0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0008678HP:0008678Renal hypoplasia/aplasia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008678HP:0008678Renal hypoplasia/aplasia0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0008678HP:0008678Renal hypoplasia/aplasia0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040283 - Occasional
HP:0008678HP:0008678Renal hypoplasia/aplasia0GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateral
HP:0008678HP:0008678Renal hypoplasia/aplasia0GREB1L CL E G H8000031042OMIM:617805Renal hypodysplasia/aplasia 3
HP:0008678HP:0008678Renal hypoplasia/aplasia0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0008678HP:0008678Renal hypoplasia/aplasia0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0008678HP:0008678Renal hypoplasia/aplasia0H4C5 CL E G H83674790OMIM:619950
HP:0008678HP:0008678Renal hypoplasia/aplasia0H4C9 CL E G H82944793OMIM:619951
HP:0008678HP:0008678Renal hypoplasia/aplasia0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0008678HP:0008678Renal hypoplasia/aplasia0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0008678HP:0008678Renal hypoplasia/aplasia0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0008678HP:0008678Renal hypoplasia/aplasia0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0008678HP:0008678Renal hypoplasia/aplasia0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional90
HP:0008678HP:0008678Renal hypoplasia/aplasia0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney disease90
HP:0008678HP:0008678Renal hypoplasia/aplasia0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0008678HP:0008678Renal hypoplasia/aplasia0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0008678HP:0008678Renal hypoplasia/aplasia0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0008678HP:0008678Renal hypoplasia/aplasia0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008678HP:0008678Renal hypoplasia/aplasia0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0008678HP:0008678Renal hypoplasia/aplasia0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0008678HP:0008678Renal hypoplasia/aplasia0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0008678HP:0008678Renal hypoplasia/aplasia0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0008678HP:0008678Renal hypoplasia/aplasia0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0008678HP:0008678Renal hypoplasia/aplasia0INSL3 CL E G H36406086OMIM:219050Cryptorchidism, unilateral or bilateral5
HP:0008678HP:0008678Renal hypoplasia/aplasia0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0008678HP:0008678Renal hypoplasia/aplasia0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional119
HP:0008678HP:0008678Renal hypoplasia/aplasia0ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateral4
HP:0008678HP:0008678Renal hypoplasia/aplasia0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 14
HP:0008678HP:0008678Renal hypoplasia/aplasia0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0008678HP:0008678Renal hypoplasia/aplasia0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0008678HP:0008678Renal hypoplasia/aplasia0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0008678HP:0008678Renal hypoplasia/aplasia0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0008678HP:0008678Renal hypoplasia/aplasia0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0008678HP:0008678Renal hypoplasia/aplasia0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0008678HP:0008678Renal hypoplasia/aplasia0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0008678HP:0008678Renal hypoplasia/aplasia0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephaly9
HP:0008678HP:0008678Renal hypoplasia/aplasia0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 129
HP:0008678HP:0008678Renal hypoplasia/aplasia0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0008678HP:0008678Renal hypoplasia/aplasia0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0008678HP:0008678Renal hypoplasia/aplasia0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0008678HP:0008678Renal hypoplasia/aplasia0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephaly112
HP:0008678HP:0008678Renal hypoplasia/aplasia0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0008678HP:0008678Renal hypoplasia/aplasia0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0008678HP:0008678Renal hypoplasia/aplasia0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0008678HP:0008678Renal hypoplasia/aplasia0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional
HP:0008678HP:0008678Renal hypoplasia/aplasia0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblF46
HP:0008678HP:0008678Renal hypoplasia/aplasia0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0008678HP:0008678Renal hypoplasia/aplasia0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0008678HP:0008678Renal hypoplasia/aplasia0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0008678HP:0008678Renal hypoplasia/aplasia0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0008678HP:0008678Renal hypoplasia/aplasia0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0008678HP:0008678Renal hypoplasia/aplasia0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 82
HP:0008678HP:0008678Renal hypoplasia/aplasia0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0008678Renal hypoplasia/aplasia0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephaly155
HP:0008678HP:0008678Renal hypoplasia/aplasia0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0008678HP:0008678Renal hypoplasia/aplasia0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040283 - Occasional5
HP:0008678HP:0008678Renal hypoplasia/aplasia0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0008678Renal hypoplasia/aplasia0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephaly5
HP:0008678HP:0008678Renal hypoplasia/aplasia0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040284 - Very rare69
HP:0008678HP:0008678Renal hypoplasia/aplasia0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0008678HP:0008678Renal hypoplasia/aplasia0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0008678HP:0008678Renal hypoplasia/aplasia0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0008678HP:0008678Renal hypoplasia/aplasia0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0008678HP:0008678Renal hypoplasia/aplasia0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0008678HP:0008678Renal hypoplasia/aplasia0NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0008678HP:0008678Renal hypoplasia/aplasia0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephaly1
HP:0008678HP:0008678Renal hypoplasia/aplasia0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0008678HP:0008678Renal hypoplasia/aplasia0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008678HP:0008678Renal hypoplasia/aplasia0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathy31
HP:0008678HP:0008678Renal hypoplasia/aplasia0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathy
HP:0008678HP:0008678Renal hypoplasia/aplasia0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathy65
HP:0008678HP:0008678Renal hypoplasia/aplasia0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0008678HP:0008678Renal hypoplasia/aplasia0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects12
HP:0008678HP:0008678Renal hypoplasia/aplasia0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0008678HP:0008678Renal hypoplasia/aplasia0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0008678HP:0008678Renal hypoplasia/aplasia0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0008678HP:0008678Renal hypoplasia/aplasia0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2138
HP:0008678HP:0008678Renal hypoplasia/aplasia0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0008678HP:0008678Renal hypoplasia/aplasia0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0008678HP:0008678Renal hypoplasia/aplasia0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008678HP:0008678Renal hypoplasia/aplasia0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0008678HP:0008678Renal hypoplasia/aplasia0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0008678HP:0008678Renal hypoplasia/aplasia0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040283 - Occasional3
HP:0008678HP:0008678Renal hypoplasia/aplasia0PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 739
HP:0008678HP:0008678Renal hypoplasia/aplasia0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0008678HP:0008678Renal hypoplasia/aplasia0PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndrome39
HP:0008678HP:0008678Renal hypoplasia/aplasia0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0008678HP:0008678Renal hypoplasia/aplasia0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0008678HP:0008678Renal hypoplasia/aplasia0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0008678HP:0008678Renal hypoplasia/aplasia0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0008678HP:0008678Renal hypoplasia/aplasia0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0008678HP:0008678Renal hypoplasia/aplasia0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephaly16
HP:0008678HP:0008678Renal hypoplasia/aplasia0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0008678HP:0008678Renal hypoplasia/aplasia0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0008678HP:0008678Renal hypoplasia/aplasia0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0008678HP:0008678Renal hypoplasia/aplasia0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal neviHP:0040283 - Occasional162
HP:0008678HP:0008678Renal hypoplasia/aplasia0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0008678HP:0008678Renal hypoplasia/aplasia0PLXNA1 CL E G H53619099OMIM:619955
HP:0008678HP:0008678Renal hypoplasia/aplasia0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0008678HP:0008678Renal hypoplasia/aplasia0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0008678HP:0008678Renal hypoplasia/aplasia0PPFIBP1 CL E G H84969249OMIM:620024
HP:0008678HP:0008678Renal hypoplasia/aplasia0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0008678HP:0008678Renal hypoplasia/aplasia0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0008678HP:0008678Renal hypoplasia/aplasia0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0008678HP:0008678Renal hypoplasia/aplasia0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0008678HP:0008678Renal hypoplasia/aplasia0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0008678HP:0008678Renal hypoplasia/aplasia0PRIM1 CL E G H55579369OMIM:620005
HP:0008678HP:0008678Renal hypoplasia/aplasia0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0008678HP:0008678Renal hypoplasia/aplasia0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0008678HP:0008678Renal hypoplasia/aplasia0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008678HP:0008678Renal hypoplasia/aplasia0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0008678HP:0008678Renal hypoplasia/aplasia0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0008678HP:0008678Renal hypoplasia/aplasia0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia34
HP:0008678HP:0008678Renal hypoplasia/aplasia0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0008678HP:0008678Renal hypoplasia/aplasia0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0008678HP:0008678Renal hypoplasia/aplasia0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0008678HP:0008678Renal hypoplasia/aplasia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0008678HP:0008678Renal hypoplasia/aplasia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0008678HP:0008678Renal hypoplasia/aplasia0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome19
HP:0008678HP:0008678Renal hypoplasia/aplasia0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephaly11
HP:0008678HP:0008678Renal hypoplasia/aplasia0RAD21 CL E G H58859811OMIM:611376Mungan syndrome25
HP:0008678HP:0008678Renal hypoplasia/aplasia0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0008678HP:0008678Renal hypoplasia/aplasia0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0008678HP:0008678Renal hypoplasia/aplasia0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional150
HP:0008678HP:0008678Renal hypoplasia/aplasia0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndrome9
HP:0008678HP:0008678Renal hypoplasia/aplasia0REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 225
HP:0008678HP:0008678Renal hypoplasia/aplasia0RET CL E G H59799967ORPHA:1848Renal agenesis, bilateral572
HP:0008678HP:0008678Renal hypoplasia/aplasia0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0008678HP:0008678Renal hypoplasia/aplasia0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0008678HP:0008678Renal hypoplasia/aplasia0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040283 - Occasional69
HP:0008678HP:0008678Renal hypoplasia/aplasia0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0008678HP:0008678Renal hypoplasia/aplasia0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0008678HP:0008678Renal hypoplasia/aplasia0ROBO2 CL E G H609210250OMIM:610878VESICOURETERAL REFLUX 2; VUR2120
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 113
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0008678HP:0008678Renal hypoplasia/aplasia0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0008678HP:0008678Renal hypoplasia/aplasia0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0008678HP:0008678Renal hypoplasia/aplasia0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0008678HP:0008678Renal hypoplasia/aplasia0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0008678HP:0008678Renal hypoplasia/aplasia0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0008678HP:0008678Renal hypoplasia/aplasia0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0008678HP:0008678Renal hypoplasia/aplasia0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephaly4
HP:0008678HP:0008678Renal hypoplasia/aplasia0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathy40
HP:0008678HP:0008678Renal hypoplasia/aplasia0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 1661
HP:0008678HP:0008678Renal hypoplasia/aplasia0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0008678HP:0008678Renal hypoplasia/aplasia0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0008678HP:0008678Renal hypoplasia/aplasia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0008678HP:0008678Renal hypoplasia/aplasia0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0008678HP:0008678Renal hypoplasia/aplasia0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040283 - Occasional49
HP:0008678HP:0008678Renal hypoplasia/aplasia0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0008678HP:0008678Renal hypoplasia/aplasia0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0008678HP:0008678Renal hypoplasia/aplasia0SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040282 - Frequent50
HP:0008678HP:0008678Renal hypoplasia/aplasia0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0008678HP:0008678Renal hypoplasia/aplasia0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0008678HP:0008678Renal hypoplasia/aplasia0SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040282 - Frequent10
HP:0008678HP:0008678Renal hypoplasia/aplasia0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0008678HP:0008678Renal hypoplasia/aplasia0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0008678HP:0008678Renal hypoplasia/aplasia0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0008678HP:0008678Renal hypoplasia/aplasia0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0008678HP:0008678Renal hypoplasia/aplasia0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0008678HP:0008678Renal hypoplasia/aplasia0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0008678HP:0008678Renal hypoplasia/aplasia0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0008678HP:0008678Renal hypoplasia/aplasia0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0008678HP:0008678Renal hypoplasia/aplasia0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephaly99
HP:0008678HP:0008678Renal hypoplasia/aplasia0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndrome71
HP:0008678HP:0008678Renal hypoplasia/aplasia0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 971
HP:0008678HP:0008678Renal hypoplasia/aplasia0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0008678HP:0008678Renal hypoplasia/aplasia0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0008678HP:0008678Renal hypoplasia/aplasia0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathy73
HP:0008678HP:0008678Renal hypoplasia/aplasia0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0008678HP:0008678Renal hypoplasia/aplasia0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephaly2
HP:0008678HP:0008678Renal hypoplasia/aplasia0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0008678HP:0008678Renal hypoplasia/aplasia0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0008678HP:0008678Renal hypoplasia/aplasia0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0008678HP:0008678Renal hypoplasia/aplasia0TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 25
HP:0008678HP:0008678Renal hypoplasia/aplasia0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0008678HP:0008678Renal hypoplasia/aplasia0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0008678HP:0008678Renal hypoplasia/aplasia0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0008678HP:0008678Renal hypoplasia/aplasia0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0008678HP:0008678Renal hypoplasia/aplasia0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0008678HP:0008678Renal hypoplasia/aplasia0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008678HP:0008678Renal hypoplasia/aplasia0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0008678HP:0008678Renal hypoplasia/aplasia0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1
HP:0008678HP:0008678Renal hypoplasia/aplasia0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0008678HP:0008678Renal hypoplasia/aplasia0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0008678HP:0008678Renal hypoplasia/aplasia0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0008678HP:0008678Renal hypoplasia/aplasia0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0008678HP:0008678Renal hypoplasia/aplasia0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like134
HP:0008678HP:0008678Renal hypoplasia/aplasia0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0008678HP:0008678Renal hypoplasia/aplasia0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0008678HP:0008678Renal hypoplasia/aplasia0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0008678HP:0008678Renal hypoplasia/aplasia0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephaly1
HP:0008678HP:0008678Renal hypoplasia/aplasia0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0008678Renal hypoplasia/aplasia0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0008678HP:0008678Renal hypoplasia/aplasia0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0008678HP:0008678Renal hypoplasia/aplasia0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0008678HP:0008678Renal hypoplasia/aplasia0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0008678HP:0008678Renal hypoplasia/aplasia0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0008678HP:0008678Renal hypoplasia/aplasia0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008678HP:0008678Renal hypoplasia/aplasia0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0008678HP:0008678Renal hypoplasia/aplasia0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0008678HP:0008678Renal hypoplasia/aplasia0WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 1395
HP:0008678HP:0008678Renal hypoplasia/aplasia0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0008678HP:0008678Renal hypoplasia/aplasia0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0008678HP:0008678Renal hypoplasia/aplasia0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0008678HP:0008678Renal hypoplasia/aplasia0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephaly224
HP:0008678HP:0008678Renal hypoplasia/aplasia0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008678HP:0008678Renal hypoplasia/aplasia0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive12
HP:0008678HP:0008678Renal hypoplasia/aplasia0WNT4 CL E G H5436112783OMIM:61181246,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs4
HP:0008678HP:0008678Renal hypoplasia/aplasia0WNT4 CL E G H5436112783ORPHA:3109Mayer-Rokitansky-Küster-Hauser syndrome4
HP:0008678HP:0008678Renal hypoplasia/aplasia0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenism4
HP:0008678HP:0008678Renal hypoplasia/aplasia0WNT4 CL E G H5436112783OMIM:158330Mullerian aplasia and hyperandrogenism4
HP:0008678HP:0008678Renal hypoplasia/aplasia0WNT4 CL E G H5436112783ORPHA:139466SERKAL syndrome4
HP:0008678HP:0008678Renal hypoplasia/aplasia0WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateral
HP:0008678HP:0008678Renal hypoplasia/aplasia0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0008678HP:0008678Renal hypoplasia/aplasia0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0008678HP:0008678Renal hypoplasia/aplasia0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0008678HP:0008678Renal hypoplasia/aplasia0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0008678HP:0008678Renal hypoplasia/aplasia0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008678HP:0008678Renal hypoplasia/aplasia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0008678HP:0008678Renal hypoplasia/aplasia0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008678HP:0000104Renal agenesis1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0008678HP:0000089Renal hypoplasia1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0008678HP:0000104Renal agenesis1ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0008678HP:0000104Renal agenesis1ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 389
HP:0008678HP:0000104Renal agenesis1ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0008678HP:0000104Renal agenesis1ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephaly3
HP:0008678HP:0000104Renal agenesis1ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0008678HP:0000104Renal agenesis1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0008678HP:0000104Renal agenesis1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0008678HP:0000104Renal agenesis1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0008678HP:0000089Renal hypoplasia1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0008678HP:0000089Renal hypoplasia1ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0008678HP:0000089Renal hypoplasia1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0008678HP:0000104Renal agenesis1ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephaly512
HP:0008678HP:0000104Renal agenesis1ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0008678HP:0000089Renal hypoplasia1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomaliesHP:0040284 - Very rare16
HP:0008678HP:0000104Renal agenesis1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomaliesHP:0040284 - Very rare16
HP:0008678HP:0000089Renal hypoplasia1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0008678HP:0000104Renal agenesis1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0008678HP:0000089Renal hypoplasia1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0008678HP:0000089Renal hypoplasia1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0008678HP:0000089Renal hypoplasia1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000089Renal hypoplasia1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000089Renal hypoplasia1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0008678HP:0000089Renal hypoplasia1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0008678HP:0000089Renal hypoplasia1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040282 - Frequent7
HP:0008678HP:0000104Renal agenesis1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0008678HP:0000104Renal agenesis1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0008678HP:0000104Renal agenesis1CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephaly181
HP:0008678HP:0000104Renal agenesis1CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephaly6
HP:0008678HP:0000104Renal agenesis1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0008678HP:0000089Renal hypoplasia1CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0008678HP:0000104Renal agenesis1CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephaly161
HP:0008678HP:0000089Renal hypoplasia1CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0008678HP:0000104Renal agenesis1CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephaly38
HP:0008678HP:0000104Renal agenesis1CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephaly146
HP:0008678HP:0000089Renal hypoplasia1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly.2
HP:0008678HP:0000104Renal agenesis1CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephaly31
HP:0008678HP:0000089Renal hypoplasia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0008678HP:0000104Renal agenesis1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0008678HP:0000104Renal agenesis1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0008678HP:0000104Renal agenesis1CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephaly15
HP:0008678HP:0000104Renal agenesis1CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0008678HP:0000089Renal hypoplasia1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0008678HP:0000089Renal hypoplasia1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0008678HP:0000104Renal agenesis1COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0000089Renal hypoplasia1COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0008678HP:0000104Renal agenesis1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0008678HP:0000104Renal agenesis1CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0008678HP:0000089Renal hypoplasia1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0008678HP:0000104Renal agenesis1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0008678HP:0000089Renal hypoplasia1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0008678HP:0000089Renal hypoplasia1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent27
HP:0008678HP:0000089Renal hypoplasia1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0008678HP:0000104Renal agenesis1DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040283 - Occasional72
HP:0008678HP:0000089Renal hypoplasia1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0008678HP:0000104Renal agenesis1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0008678HP:0000104Renal agenesis1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0008678HP:0000104Renal agenesis1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0008678HP:0000089Renal hypoplasia1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6HP:0040283 - Occasional9
HP:0008678HP:0000089Renal hypoplasia1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0008678HP:0000089Renal hypoplasia1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0008678HP:0000089Renal hypoplasia1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0008678HP:0000089Renal hypoplasia1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0008678HP:0000104Renal agenesis1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0008678HP:0000104Renal agenesis1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0008678HP:0000089Renal hypoplasia1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0008678HP:0000089Renal hypoplasia1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0008678HP:0000089Renal hypoplasia1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome.172
HP:0008678HP:0000089Renal hypoplasia1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0008678HP:0000104Renal agenesis1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0008678HP:0000104Renal agenesis1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0008678HP:0000089Renal hypoplasia1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0008678HP:0000104Renal agenesis1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0008678HP:0000104Renal agenesis1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0008678HP:0000104Renal agenesis1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0008678HP:0000104Renal agenesis1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040281 - Very frequent58
HP:0008678HP:0000104Renal agenesis1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0008678HP:0000104Renal agenesis1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0008678HP:0000104Renal agenesis1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0008678HP:0000089Renal hypoplasia1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0008678HP:0000089Renal hypoplasia1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0008678HP:0000104Renal agenesis1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0008678HP:0000089Renal hypoplasia1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0008678HP:0000089Renal hypoplasia1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent114
HP:0008678HP:0000089Renal hypoplasia1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0008678HP:0000104Renal agenesis1FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0008678HP:0000089Renal hypoplasia1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0008678HP:0000104Renal agenesis1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0008678HP:0000089Renal hypoplasia1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0008678HP:0000104Renal agenesis1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0008678HP:0000104Renal agenesis1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0008678HP:0000104Renal agenesis1FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent2
HP:0008678HP:0000104Renal agenesis1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0008678HP:0000104Renal agenesis1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0008678HP:0000104Renal agenesis1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0008678HP:0000104Renal agenesis1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0008678HP:0000104Renal agenesis1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0008678HP:0000089Renal hypoplasia1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0008678HP:0000104Renal agenesis1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0008678HP:0000089Renal hypoplasia1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0008678HP:0000089Renal hypoplasia1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0008678HP:0000104Renal agenesis1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0008678HP:0000089Renal hypoplasia1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0008678HP:0000089Renal hypoplasia1FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040281 - Very frequent353
HP:0008678HP:0000104Renal agenesis1FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0008678HP:0000104Renal agenesis1FREM1 CL E G H15832623399ORPHA:217266BNAR syndromeHP:0040282 - Frequent198
HP:0008678HP:0000089Renal hypoplasia1FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040281 - Very frequent263
HP:0008678HP:0000089Renal hypoplasia1FREM2 CL E G H34164025396OMIM:617666Fraser syndrome 2.263
HP:0008678HP:0000104Renal agenesis1FREM2 CL E G H34164025396OMIM:617666Fraser syndrome 2.263
HP:0008678HP:0000104Renal agenesis1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040282 - Frequent3
HP:0008678HP:0000104Renal agenesis1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0008678HP:0000104Renal agenesis1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0008678HP:0000104Renal agenesis1GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome83
HP:0008678HP:0000104Renal agenesis1GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0008678HP:0000089Renal hypoplasia1GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0008678HP:0000104Renal agenesis1GFRA1 CL E G H26744243OMIM:6198871
HP:0008678HP:0000104Renal agenesis1GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent1
HP:0008678HP:0000104Renal agenesis1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0008678HP:0000104Renal agenesis1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0008678HP:0000089Renal hypoplasia1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0008678HP:0000104Renal agenesis1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008678HP:0000089Renal hypoplasia1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0008678HP:0000104Renal agenesis1GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0008678HP:0000104Renal agenesis1GREB1L CL E G H8000031042OMIM:617805Renal hypodysplasia/aplasia 3.
HP:0008678HP:0000089Renal hypoplasia1GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040281 - Very frequent80
HP:0008678HP:0000089Renal hypoplasia1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008678HP:0000089Renal hypoplasia1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008678HP:0000089Renal hypoplasia1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008678HP:0000089Renal hypoplasia1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0008678HP:0000089Renal hypoplasia1H4C5 CL E G H83674790OMIM:619950
HP:0008678HP:0000104Renal agenesis1H4C9 CL E G H82944793OMIM:619951
HP:0008678HP:0000089Renal hypoplasia1HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1.2
HP:0008678HP:0000104Renal agenesis1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0008678HP:0000089Renal hypoplasia1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0008678HP:0000089Renal hypoplasia1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0008678HP:0000104Renal agenesis1HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0008678HP:0000089Renal hypoplasia1HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0008678HP:0000104Renal agenesis1HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0008678HP:0000104Renal agenesis1HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040282 - Frequent25
HP:0008678HP:0000089Renal hypoplasia1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0008678HP:0000104Renal agenesis1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008678HP:0000104Renal agenesis1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0008678HP:0000089Renal hypoplasia1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome.6
HP:0008678HP:0000104Renal agenesis1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0008678HP:0000089Renal hypoplasia1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0008678HP:0000104Renal agenesis1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0008678HP:0000104Renal agenesis1INSL3 CL E G H36406086OMIM:219050Cryptorchidism, unilateral or bilateral.5
HP:0008678HP:0000089Renal hypoplasia1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0008678HP:0000104Renal agenesis1ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent4
HP:0008678HP:0000104Renal agenesis1ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 1.4
HP:0008678HP:0000089Renal hypoplasia1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0008678HP:0000089Renal hypoplasia1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0008678HP:0000089Renal hypoplasia1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040284 - Very rare193
HP:0008678HP:0000089Renal hypoplasia1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040284 - Very rare128
HP:0008678HP:0000089Renal hypoplasia1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0008678HP:0000104Renal agenesis1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0008678HP:0000104Renal agenesis1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0008678HP:0000104Renal agenesis1KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephaly9
HP:0008678HP:0000089Renal hypoplasia1KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12.9
HP:0008678HP:0000104Renal agenesis1KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12.9
HP:0008678HP:0000089Renal hypoplasia1KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessiveHP:0040284 - Very rare9
HP:0008678HP:0000104Renal agenesis1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0008678HP:0000104Renal agenesis1KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephaly112
HP:0008678HP:0000104Renal agenesis1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0008678HP:0000104Renal agenesis1KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0008678HP:0000089Renal hypoplasia1KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0008678HP:0000089Renal hypoplasia1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0008678HP:0000089Renal hypoplasia1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblF46
HP:0008678HP:0000089Renal hypoplasia1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0008678HP:0000104Renal agenesis1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0008678HP:0000089Renal hypoplasia1MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0008678HP:0000104Renal agenesis1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0008678HP:0000089Renal hypoplasia1MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0008678HP:0000104Renal agenesis1MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0000104Renal agenesis1MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephaly155
HP:0008678HP:0000089Renal hypoplasia1MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0008678HP:0000089Renal hypoplasia1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008678HP:0000104Renal agenesis1METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0000104Renal agenesis1MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephaly5
HP:0008678HP:0000104Renal agenesis1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0008678HP:0000089Renal hypoplasia1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008678HP:0000089Renal hypoplasia1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome.1
HP:0008678HP:0000089Renal hypoplasia1MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0008678HP:0000089Renal hypoplasia1MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0008678HP:0000089Renal hypoplasia1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0008678HP:0000104Renal agenesis1NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0008678HP:0000104Renal agenesis1NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephaly1
HP:0008678HP:0000089Renal hypoplasia1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0008678HP:0000089Renal hypoplasia1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0008678HP:0000104Renal agenesis1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0008678HP:0000104Renal agenesis1NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0008678HP:0000089Renal hypoplasia1NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0008678HP:0000089Renal hypoplasia1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1HP:0040283 - Occasional494
HP:0008678HP:0000089Renal hypoplasia1NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0008678HP:0000104Renal agenesis1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0008678HP:0000089Renal hypoplasia1NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2.138
HP:0008678HP:0000104Renal agenesis1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0008678HP:0000089Renal hypoplasia1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0008678HP:0000104Renal agenesis1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.34
HP:0008678HP:0000104Renal agenesis1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0008678HP:0000089Renal hypoplasia1PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 7HP:0040283 - Occasional39
HP:0008678HP:0000089Renal hypoplasia1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0008678HP:0000089Renal hypoplasia1PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040282 - Frequent39
HP:0008678HP:0000089Renal hypoplasia1PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0008678HP:0000104Renal agenesis1PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0008678HP:0000089Renal hypoplasia1PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0008678HP:0000089Renal hypoplasia1PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0008678HP:0000089Renal hypoplasia1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0008678HP:0000104Renal agenesis1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0008678HP:0000104Renal agenesis1PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephaly16
HP:0008678HP:0000104Renal agenesis1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0008678HP:0000104Renal agenesis1PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0008678HP:0000089Renal hypoplasia1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0008678HP:0000104Renal agenesis1PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndromeHP:0040284 - Very rare
HP:0008678HP:0000089Renal hypoplasia1PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi162
HP:0008678HP:0000104Renal agenesis1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0008678HP:0000089Renal hypoplasia1PLXNA1 CL E G H53619099OMIM:619955
HP:0008678HP:0000104Renal agenesis1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0008678HP:0000104Renal agenesis1PPFIBP1 CL E G H84969249OMIM:620024
HP:0008678HP:0000089Renal hypoplasia1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0008678HP:0000104Renal agenesis1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0008678HP:0000104Renal agenesis1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0008678HP:0000104Renal agenesis1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0008678HP:0000089Renal hypoplasia1PQBP1 CL E G H100849330OMIM:309500Renpenning syndromeHP:0040283 - Occasional28
HP:0008678HP:0000089Renal hypoplasia1PRIM1 CL E G H55579369OMIM:620005
HP:0008678HP:0000104Renal agenesis1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008678HP:0000089Renal hypoplasia1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0008678HP:0000104Renal agenesis1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0008678HP:0000104Renal agenesis1PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia34
HP:0008678HP:0000104Renal agenesis1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0008678HP:0000104Renal agenesis1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0008678HP:0000104Renal agenesis1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0008678HP:0000104Renal agenesis1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0008678HP:0000089Renal hypoplasia1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0008678HP:0000104Renal agenesis1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0008678HP:0000089Renal hypoplasia1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0008678HP:0000104Renal agenesis1PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0008678HP:0000089Renal hypoplasia1PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0008678HP:0000104Renal agenesis1PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephaly11
HP:0008678HP:0000089Renal hypoplasia1RAD21 CL E G H58859811OMIM:611376Mungan syndrome.25
HP:0008678HP:0000089Renal hypoplasia1RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional9
HP:0008678HP:0000089Renal hypoplasia1REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 2.25
HP:0008678HP:0000104Renal agenesis1RET CL E G H59799967ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent572
HP:0008678HP:0000089Renal hypoplasia1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000089Renal hypoplasia1RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W.
HP:0008678HP:0000089Renal hypoplasia1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0008678HP:0000089Renal hypoplasia1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0008678HP:0000089Renal hypoplasia1ROBO2 CL E G H609210250OMIM:610878VESICOURETERAL REFLUX 2; VUR2120
HP:0008678HP:0000104Renal agenesis1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0008678HP:0000104Renal agenesis1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0008678HP:0000104Renal agenesis1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0008678HP:0000104Renal agenesis1RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 11.3
HP:0008678HP:0000104Renal agenesis1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0008678HP:0000104Renal agenesis1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0008678HP:0000104Renal agenesis1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0008678HP:0000104Renal agenesis1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0008678HP:0000104Renal agenesis1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0008678HP:0000104Renal agenesis1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0008678HP:0000089Renal hypoplasia1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0008678HP:0000104Renal agenesis1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0008678HP:0000104Renal agenesis1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0008678HP:0000104Renal agenesis1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0008678HP:0000104Renal agenesis1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0008678HP:0000104Renal agenesis1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0008678HP:0000104Renal agenesis1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0008678HP:0000104Renal agenesis1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0008678HP:0000089Renal hypoplasia1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008678HP:0000104Renal agenesis1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0008678HP:0000089Renal hypoplasia1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0008678HP:0000089Renal hypoplasia1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0008678HP:0000104Renal agenesis1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0008678HP:0000089Renal hypoplasia1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0008678HP:0000104Renal agenesis1SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephaly4
HP:0008678HP:0000104Renal agenesis1SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0008678HP:0000104Renal agenesis1SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0008678HP:0000089Renal hypoplasia1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008678HP:0000104Renal agenesis1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0008678HP:0000104Renal agenesis1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0008678HP:0000104Renal agenesis1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0008678HP:0000104Renal agenesis1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0008678HP:0000104Renal agenesis1SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0008678HP:0000104Renal agenesis1SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0008678HP:0000104Renal agenesis1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0008678HP:0000104Renal agenesis1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0008678HP:0000104Renal agenesis1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0008678HP:0000089Renal hypoplasia1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0008678HP:0000089Renal hypoplasia1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0008678HP:0000089Renal hypoplasia1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0008678HP:0000104Renal agenesis1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0008678HP:0000104Renal agenesis1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0008678HP:0000104Renal agenesis1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0008678HP:0000104Renal agenesis1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0008678HP:0000104Renal agenesis1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0008678HP:0000104Renal agenesis1STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephaly99
HP:0008678HP:0000089Renal hypoplasia1STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional71
HP:0008678HP:0000089Renal hypoplasia1STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0008678HP:0000104Renal agenesis1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0008678HP:0000089Renal hypoplasia1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0008678HP:0000104Renal agenesis1SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0008678HP:0000104Renal agenesis1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0008678HP:0000104Renal agenesis1TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephaly2
HP:0008678HP:0000104Renal agenesis1TBC1D24 CL E G H5746529203OMIM:220500Doors syndromeHP:0040283 - Occasional271
HP:0008678HP:0000089Renal hypoplasia1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000089Renal hypoplasia1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0008678HP:0000104Renal agenesis1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0008678HP:0000089Renal hypoplasia1TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 2.5
HP:0008678HP:0000089Renal hypoplasia1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0008678HP:0000104Renal agenesis1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0008678HP:0000104Renal agenesis1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0008678HP:0000104Renal agenesis1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0008678HP:0000104Renal agenesis1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0008678HP:0000104Renal agenesis1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0008678HP:0000104Renal agenesis1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0008678HP:0000104Renal agenesis1THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0008678HP:0000104Renal agenesis1THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1
HP:0008678HP:0000104Renal agenesis1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0008678HP:0000104Renal agenesis1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0008678HP:0000089Renal hypoplasia1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0008678HP:0000089Renal hypoplasia1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0008678HP:0000104Renal agenesis1TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like134
HP:0008678HP:0000104Renal agenesis1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0008678HP:0000104Renal agenesis1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008678HP:0000104Renal agenesis1TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephaly1
HP:0008678HP:0000104Renal agenesis1TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephaly
HP:0008678HP:0000089Renal hypoplasia1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0008678HP:0000104Renal agenesis1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0008678HP:0000089Renal hypoplasia1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0008678HP:0000104Renal agenesis1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0008678HP:0000089Renal hypoplasia1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008678HP:0000104Renal agenesis1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040282 - Frequent111
HP:0008678HP:0000089Renal hypoplasia1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008678HP:0000104Renal agenesis1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0008678HP:0000104Renal agenesis1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040283 - Occasional10
HP:0008678HP:0000089Renal hypoplasia1WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 13.95
HP:0008678HP:0000089Renal hypoplasia1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0008678HP:0000089Renal hypoplasia1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0008678HP:0000089Renal hypoplasia1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0008678HP:0000104Renal agenesis1WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephaly224
HP:0008678HP:0000104Renal agenesis1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008678HP:0000104Renal agenesis1WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0008678HP:0000104Renal agenesis1WNT4 CL E G H5436112783OMIM:61181246,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsHP:0040281 - Very frequent4
HP:0008678HP:0000104Renal agenesis1WNT4 CL E G H5436112783ORPHA:3109Mayer-Rokitansky-Küster-Hauser syndrome4
HP:0008678HP:0000104Renal agenesis1WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0008678HP:0000104Renal agenesis1WNT4 CL E G H5436112783OMIM:158330Mullerian aplasia and hyperandrogenism4
HP:0008678HP:0000104Renal agenesis1WNT4 CL E G H5436112783ORPHA:139466SERKAL syndromeHP:0040280 - Obligate4
HP:0008678HP:0000104Renal agenesis1WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0008678HP:0000089Renal hypoplasia1XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0008678HP:0000104Renal agenesis1XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0008678HP:0000104Renal agenesis1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0008678HP:0000104Renal agenesis1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked.39
HP:0008678HP:0000104Renal agenesis1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008678HP:0000089Renal hypoplasia1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0008678HP:0000089Renal hypoplasia1ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008678HP:0000122Unilateral renal agenesis2ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0008678HP:0000122Unilateral renal agenesis2ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3HP:0040283 - Occasional89
HP:0008678HP:0000122Unilateral renal agenesis2ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0008678HP:0000122Unilateral renal agenesis2ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent3
HP:0008678HP:0000122Unilateral renal agenesis2ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0008678HP:0000122Unilateral renal agenesis2ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0008678HP:0000122Unilateral renal agenesis2ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent512
HP:0008678HP:0000122Unilateral renal agenesis2ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0008678HP:0000122Unilateral renal agenesis2ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0008678HP:0000122Unilateral renal agenesis2CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0008678HP:0000122Unilateral renal agenesis2CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0008678HP:0000122Unilateral renal agenesis2CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent181
HP:0008678HP:0000122Unilateral renal agenesis2CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent6
HP:0008678HP:0012584Bilateral renal hypoplasia2CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0008678HP:0000122Unilateral renal agenesis2CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent161
HP:0008678HP:0000122Unilateral renal agenesis2CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent38
HP:0008678HP:0000122Unilateral renal agenesis2CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent146
HP:0008678HP:0000122Unilateral renal agenesis2CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent31
HP:0008678HP:0000122Unilateral renal agenesis2CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent15
HP:0008678HP:0000122Unilateral renal agenesis2COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0008678HP:0000122Unilateral renal agenesis2COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0008678HP:0000122Unilateral renal agenesis2CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0008678HP:0000122Unilateral renal agenesis2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0008678HP:0000122Unilateral renal agenesis2DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0008678HP:0000122Unilateral renal agenesis2DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0008678HP:0000122Unilateral renal agenesis2ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0008678HP:0000122Unilateral renal agenesis2ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0008678HP:0000122Unilateral renal agenesis2ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0008678HP:0000122Unilateral renal agenesis2EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0008678HP:0000122Unilateral renal agenesis2FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0008678HP:0000122Unilateral renal agenesis2FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0008678HP:0000122Unilateral renal agenesis2FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0008678HP:0000122Unilateral renal agenesis2GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndromeHP:0040282 - Frequent83
HP:0008678HP:0000122Unilateral renal agenesis2GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0008678HP:0010958Bilateral renal agenesis2GFRA1 CL E G H26744243OMIM:6198871
HP:0008678HP:0000122Unilateral renal agenesis2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0008678HP:0010958Bilateral renal agenesis2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0008678HP:0000122Unilateral renal agenesis2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008678HP:0012583Unilateral renal hypoplasia2H4C5 CL E G H83674790OMIM:619950
HP:0008678HP:0000122Unilateral renal agenesis2H4C9 CL E G H82944793OMIM:619951
HP:0008678HP:0000122Unilateral renal agenesis2HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0008678HP:0012583Unilateral renal hypoplasia2HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0008678HP:0000122Unilateral renal agenesis2HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008678HP:0010958Bilateral renal agenesis2HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008678HP:0000122Unilateral renal agenesis2IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0008678HP:0010958Bilateral renal agenesis2ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 14
HP:0008678HP:0000122Unilateral renal agenesis2KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent9
HP:0008678HP:0000122Unilateral renal agenesis2KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent112
HP:0008678HP:0000122Unilateral renal agenesis2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0008678HP:0000122Unilateral renal agenesis2KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0008678HP:0000122Unilateral renal agenesis2LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblFHP:0040283 - Occasional46
HP:0008678HP:0000122Unilateral renal agenesis2MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0008678HP:0000122Unilateral renal agenesis2MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0008678HP:0000122Unilateral renal agenesis2MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent155
HP:0008678HP:0000122Unilateral renal agenesis2METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0008678HP:0000122Unilateral renal agenesis2MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent5
HP:0008678HP:0000122Unilateral renal agenesis2NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0008678HP:0010958Bilateral renal agenesis2NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0008678HP:0000122Unilateral renal agenesis2NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent1
HP:0008678HP:0012584Bilateral renal hypoplasia2NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0008678HP:0000122Unilateral renal agenesis2NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008678HP:0000122Unilateral renal agenesis2PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0008678HP:0000122Unilateral renal agenesis2PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent16
HP:0008678HP:0000122Unilateral renal agenesis2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0008678HP:0012583Unilateral renal hypoplasia2PLXNA1 CL E G H53619099OMIM:619955
HP:0008678HP:0000122Unilateral renal agenesis2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040284 - Very rare76
HP:0008678HP:0000122Unilateral renal agenesis2PPFIBP1 CL E G H84969249OMIM:620024
HP:0008678HP:0000122Unilateral renal agenesis2PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0008678HP:0000122Unilateral renal agenesis2PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0008678HP:0000122Unilateral renal agenesis2PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyHP:0040284 - Very rare
HP:0008678HP:0000122Unilateral renal agenesis2PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008678HP:0000122Unilateral renal agenesis2PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0008678HP:0000122Unilateral renal agenesis2PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0008678HP:0012584Bilateral renal hypoplasia2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0008678HP:0000122Unilateral renal agenesis2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0008678HP:0000122Unilateral renal agenesis2PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent11
HP:0008678HP:0000122Unilateral renal agenesis2RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0008678HP:0000122Unilateral renal agenesis2SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent4
HP:0008678HP:0000122Unilateral renal agenesis2SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0008678HP:0000122Unilateral renal agenesis2SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040283 - Occasional49
HP:0008678HP:0000122Unilateral renal agenesis2SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0008678HP:0000122Unilateral renal agenesis2SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0008678HP:0000122Unilateral renal agenesis2SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0008678HP:0000122Unilateral renal agenesis2STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent99
HP:0008678HP:0000122Unilateral renal agenesis2STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0008678HP:0000122Unilateral renal agenesis2TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent2
HP:0008678HP:0000122Unilateral renal agenesis2TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0008678HP:0000122Unilateral renal agenesis2THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome1
HP:0008678HP:0000122Unilateral renal agenesis2THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0008678HP:0000122Unilateral renal agenesis2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0008678HP:0000122Unilateral renal agenesis2TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0008678HP:0000122Unilateral renal agenesis2TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like.134
HP:0008678HP:0000122Unilateral renal agenesis2TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent1
HP:0008678HP:0000122Unilateral renal agenesis2TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0008678HP:0000122Unilateral renal agenesis2TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0008678HP:0000122Unilateral renal agenesis2WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0008678HP:0000122Unilateral renal agenesis2WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent224
HP:0008678HP:0000122Unilateral renal agenesis2WNT4 CL E G H5436112783ORPHA:3109Mayer-Rokitansky-Küster-Hauser syndromeHP:0040283 - Occasional4
HP:0008678HP:0000122Unilateral renal agenesis2WNT4 CL E G H5436112783OMIM:158330Mullerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0008678HP:0000122Unilateral renal agenesis2XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0008678HP:0012584Bilateral renal hypoplasia2ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (332) :ADA2 AFF3 ALDH18A1 ALKBH8 ANKLE2 ANKRD17 ANOS1 APC APC2 ARID1B ARL6 ARVCF ARX ASPM ASXL2 ATN1 ATPAF2 ATRX B3GLCT BAZ1B BCL7B BCOR BMP4 BRCA1 BRCA2 BRIP1 BUD23 CCDC141 CCNQ CD96 CDC42 CDK5RAP2 CDK6 CDON CENPF CENPJ CEP120 CEP135 CEP152 CEP55 CEP63 CHD7 CIT CLIP2 COG6 COMT COPB2 COX14 CPLANE1 CTU2 DACT1 DCC DCDC2 DCHS1 DEAF1 DHCR24 DHCR7 DISP1 DLL1 DLL4 DNAJC30 DUSP6 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EIF4H ELN ERCC4 ERCC6 ERCC8 EVC EVC2 EYA1 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN5 FBXW11 FEZF1 FGF10 FGF17 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FKBP6 FLII FLRT3 FOXH1 FRAS1 FREM1 FREM2 FUZ GAS1 GATA1 GATA3 GDF3 GDF6 GEMIN4 GFRA1 GLI1 GLI2 GLI3 GNB2 GP1BB GPKOW GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H4C3 H4C5 H4C9 HAAO HESX1 HIRA HMGA2 HNF1B HOXD13 HRAS HS2ST1 HS6ST1 HSPA9 IDH1 IFT80 IL17RD INSL3 INTU IQSEC2 ITGA8 JAG1 JMJD1C KCNJ2 KCNJ5 KCTD1 KDM6A KIAA0753 KIF14 KIF7 KMT2D KNL1 KNSTRN KYNU LEMD3 LHX1 LIMK1 LMBRD1 LRP4 MAD2L2 MBTPS2 MCM5 MCM7 MCPH1 MDM2 MEOX1 METTL27 METTL5 MFSD2A MKKS MKS1 MLXIPL MUC1 MYOD1 NAA10 NADSYN1 NCAPD3 NCAPG2 NCF1 NDNF NDUFAF3 NDUFB8 NDUFS2 NF1 NFIA NIPBL NODAL NOTCH2 NSD1 NSD2 NSDHL OFD1 PALB2 PAX1 PAX2 PBX1 PDE6D PHC1 PHGDH PIEZO2 PIK3C2A PIK3CA PIK3CD PLXNA1 POR PORCN PPFIBP1 PPP1R15B PPP2R1A PPP2R3C PQBP1 PRIM1 PRKACA PRKACB PRKAR1A PRMT7 PROK2 PROKR2 PTCH1 PTPN11 PUF60 PYCR2 RAD21 RAD51 RAD51C RAI1 RARB REN RET RFC2 RFWD3 RIPK4 RMND1 RNU4ATAC ROBO2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RTTN SALL1 SALL4 SASS6 SCO2 SDCCAG8 SEC24C SEMA3A SETD2 SF3B2 SF3B4 SH2B1 SHH SIX1 SIX3 SIX5 SKIC2 SKIC3 SLC30A9 SLX4 SON SOX10 SPRY4 SRCAP STIL STRA6 STS STX1A SUFU SURF1 TACR3 TAF13 TBC1D24 TBL2 TBX1 TBX18 TBX3 TCTN3 TDGF1 TFAP2A TGIF1 THOC6 TMCO1 TMEM216 TMEM270 TMEM67 TNXB TOPORS TP63 TRAPPC10 TRAPPC14 TRRAP TSR2 TXNL4A UBE2T UFD1 VANGL1 VPS37D WBP11 WDR11 WDR19 WDR35 WDR62 WLS WNT3 WNT4 WNT9B XRCC2 XRCC4 ZIC2 ZIC3 ZMYM2 ZNF699 ZPR1

Diseases (221) :ORPHA:124 OMIM:619297 ORPHA:90348 OMIM:616603 OMIM:618504 ORPHA:2512 OMIM:619504 OMIM:308700 ORPHA:478 ORPHA:3258 ORPHA:821 OMIM:135900 OMIM:600151 ORPHA:567 ORPHA:2508 OMIM:617190 OMIM:618494 OMIM:604273 OMIM:301040 OMIM:309580 ORPHA:709 OMIM:261540 ORPHA:904 ORPHA:568 OMIM:309800 OMIM:607932 ORPHA:84 ORPHA:140952 ORPHA:1308 ORPHA:487796 OMIM:616737 ORPHA:280200 OMIM:243605 OMIM:616300 OMIM:236500 OMIM:214800 OMIM:617090 OMIM:614576 OMIM:619053 ORPHA:2754 OMIM:277170 OMIM:618142 ORPHA:857 ORPHA:84081 ORPHA:314679 OMIM:601390 ORPHA:819 ORPHA:35107 OMIM:270400 ORPHA:818 OMIM:616589 ORPHA:93271 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:194050 ORPHA:90324 ORPHA:107 OMIM:113650 ORPHA:2792 OMIM:227650 OMIM:300514 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:614083 OMIM:615546 OMIM:618914 ORPHA:2363 OMIM:149730 ORPHA:1848 OMIM:219000 ORPHA:2052 OMIM:608980 ORPHA:217266 OMIM:617666 ORPHA:3027 ORPHA:2237 ORPHA:2345 OMIM:118100 OMIM:617913 OMIM:619887 OMIM:146510 ORPHA:672 OMIM:619503 ORPHA:2570 OMIM:617805 OMIM:619758 OMIM:619950 OMIM:619951 OMIM:617660 ORPHA:94063 ORPHA:261265 ORPHA:93111 OMIM:137920 ORPHA:887 ORPHA:2874 OMIM:619194 OMIM:616854 ORPHA:99646 OMIM:219050 OMIM:617926 OMIM:191830 OMIM:118450 ORPHA:37553 OMIM:181270 ORPHA:2322 OMIM:616258 OMIM:617914 ORPHA:221139 OMIM:617661 ORPHA:79284 OMIM:212780 ORPHA:85284 OMIM:308205 OMIM:617564 OMIM:618681 ORPHA:2473 OMIM:249000 OMIM:174000 OMIM:618975 OMIM:618845 OMIM:618460 ORPHA:70474 ORPHA:363700 OMIM:613735 OMIM:122470 OMIM:270100 OMIM:610205 OMIM:619695 OMIM:308050 OMIM:616002 OMIM:120330 ORPHA:1475 ORPHA:97362 OMIM:617641 OMIM:615665 OMIM:256520 ORPHA:2461 OMIM:248700 OMIM:618440 OMIM:612918 OMIM:619955 ORPHA:95699 ORPHA:2092 OMIM:620024 OMIM:616817 OMIM:616362 ORPHA:457284 OMIM:618419 OMIM:309500 OMIM:620005 OMIM:101800 ORPHA:464288 OMIM:244200 OMIM:151100 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:611376 ORPHA:2470 OMIM:613092 OMIM:617784 ORPHA:1234 OMIM:614922 OMIM:210710 OMIM:610878 OMIM:614900 OMIM:105650 ORPHA:468631 OMIM:107480 ORPHA:959 OMIM:607323 OMIM:615993 OMIM:164210 OMIM:154400 ORPHA:1788 ORPHA:245 ORPHA:261222 ORPHA:84064 OMIM:617595 ORPHA:500150 OMIM:617140 ORPHA:2044 OMIM:601186 ORPHA:281090 OMIM:220500 OMIM:188400 OMIM:143400 ORPHA:3138 ORPHA:2753 ORPHA:1297 OMIM:113620 OMIM:613680 ORPHA:363444 OMIM:213980 OMIM:216360 OMIM:606408 OMIM:604292 ORPHA:1896 OMIM:618454 OMIM:608572 OMIM:619227 OMIM:614377 OMIM:614376 OMIM:614091 OMIM:619648 OMIM:273395 OMIM:611812 ORPHA:3109 ORPHA:247768 OMIM:158330 ORPHA:139466 OMIM:616541 OMIM:306955 OMIM:619522 OMIM:619488 OMIM:619321
 

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