Human Phenotype Ontology 
Grandparent Node:
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Decreased body weight (HP:0004325)help
Parent Node:
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Failure to thrive (HP:0001508)help
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Failure to thrive in infancy (HP:0001531)help
Term ID: 1531
Name: Failure to thrive in infancy
Synonym: Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy
Definition:
Comments:
Reference: HP:0001531
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSevere failure to thrive (HP:0001525) 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:0001531HP:0001531Failure to thrive in infancy0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0001531HP:0001531Failure to thrive in infancy0ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional135
HP:0001531HP:0001531Failure to thrive in infancy0ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional192
HP:0001531HP:0001531Failure to thrive in infancy0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0001531HP:0001531Failure to thrive in infancy0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0001531HP:0001531Failure to thrive in infancy0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0001531HP:0001531Failure to thrive in infancy0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001531HP:0001531Failure to thrive in infancy0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional38
HP:0001531HP:0001531Failure to thrive in infancy0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0001531HP:0001531Failure to thrive in infancy0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0001531HP:0001531Failure to thrive in infancy0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001531HP:0001531Failure to thrive in infancy0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001531HP:0001531Failure to thrive in infancy0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001531HP:0001531Failure to thrive in infancy0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive.
HP:0001531HP:0001531Failure to thrive in infancy0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001531HP:0001531Failure to thrive in infancy0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0001531HP:0001531Failure to thrive in infancy0CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040282 - Frequent15
HP:0001531HP:0001531Failure to thrive in infancy0CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040282 - Frequent17
HP:0001531HP:0001531Failure to thrive in infancy0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0001531HP:0001531Failure to thrive in infancy0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0001531HP:0001531Failure to thrive in infancy0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0001531HP:0001531Failure to thrive in infancy0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7.134
HP:0001531HP:0001531Failure to thrive in infancy0ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional13
HP:0001531HP:0001531Failure to thrive in infancy0EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional67
HP:0001531HP:0001531Failure to thrive in infancy0EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional55
HP:0001531HP:0001531Failure to thrive in infancy0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001531HP:0001531Failure to thrive in infancy0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001531HP:0001531Failure to thrive in infancy0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0001531HP:0001531Failure to thrive in infancy0ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional77
HP:0001531HP:0001531Failure to thrive in infancy0ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional12
HP:0001531HP:0001531Failure to thrive in infancy0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0001531HP:0001531Failure to thrive in infancy0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001531HP:0001531Failure to thrive in infancy0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040282 - Frequent172
HP:0001531HP:0001531Failure to thrive in infancy0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0001531HP:0001531Failure to thrive in infancy0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0001531HP:0001531Failure to thrive in infancy0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001531HP:0001531Failure to thrive in infancy0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0001531HP:0001531Failure to thrive in infancy0GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional59
HP:0001531HP:0001531Failure to thrive in infancy0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001531HP:0001531Failure to thrive in infancy0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001531HP:0001531Failure to thrive in infancy0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001531HP:0001531Failure to thrive in infancy0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0001531HP:0001531Failure to thrive in infancy0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0001531HP:0001531Failure to thrive in infancy0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0001531HP:0001531Failure to thrive in infancy0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0001531HP:0001531Failure to thrive in infancy0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001531HP:0001531Failure to thrive in infancy0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001531HP:0001531Failure to thrive in infancy0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0001531HP:0001531Failure to thrive in infancy0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional32
HP:0001531HP:0001531Failure to thrive in infancy0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0001531HP:0001531Failure to thrive in infancy0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001531HP:0001531Failure to thrive in infancy0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001531HP:0001531Failure to thrive in infancy0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0001531HP:0001531Failure to thrive in infancy0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional4
HP:0001531HP:0001531Failure to thrive in infancy0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001531HP:0001531Failure to thrive in infancy0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040281 - Very frequent3
HP:0001531HP:0001531Failure to thrive in infancy0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0001531HP:0001531Failure to thrive in infancy0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0001531HP:0001531Failure to thrive in infancy0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0001531HP:0001531Failure to thrive in infancy0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0LTC4S CL E G H40566719OMIM:614037LEUKOTRIENE C4 SYNTHASE DEFICIENCY1
HP:0001531HP:0001531Failure to thrive in infancy0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001531HP:0001531Failure to thrive in infancy0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0001531HP:0001531Failure to thrive in infancy0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0001531HP:0001531Failure to thrive in infancy0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0001531HP:0001531Failure to thrive in infancy0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0001531HP:0001531Failure to thrive in infancy0MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040282 - Frequent81
HP:0001531HP:0001531Failure to thrive in infancy0MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040282 - Frequent77
HP:0001531HP:0001531Failure to thrive in infancy0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001531HP:0001531Failure to thrive in infancy0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001531HP:0001531Failure to thrive in infancy0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001531HP:0001531Failure to thrive in infancy0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001531HP:0001531Failure to thrive in infancy0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001531HP:0001531Failure to thrive in infancy0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0001531HP:0001531Failure to thrive in infancy0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001531HP:0001531Failure to thrive in infancy0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001531HP:0001531Failure to thrive in infancy0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0001531HP:0001531Failure to thrive in infancy0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001531HP:0001531Failure to thrive in infancy0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional7
HP:0001531HP:0001531Failure to thrive in infancy0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional11
HP:0001531HP:0001531Failure to thrive in infancy0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001531HP:0001531Failure to thrive in infancy0NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional4
HP:0001531HP:0001531Failure to thrive in infancy0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0001531HP:0001531Failure to thrive in infancy0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0001531HP:0001531Failure to thrive in infancy0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0001531HP:0001531Failure to thrive in infancy0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0001531HP:0001531Failure to thrive in infancy0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040281 - Very frequent27
HP:0001531HP:0001531Failure to thrive in infancy0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001531HP:0001531Failure to thrive in infancy0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0001531HP:0001531Failure to thrive in infancy0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0001531HP:0001531Failure to thrive in infancy0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040281 - Very frequent1
HP:0001531HP:0001531Failure to thrive in infancy0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001531HP:0001531Failure to thrive in infancy0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001531HP:0001531Failure to thrive in infancy0PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI71
HP:0001531HP:0001531Failure to thrive in infancy0RAC2 CL E G H58809802OMIM:618987IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C9
HP:0001531HP:0001531Failure to thrive in infancy0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0001531HP:0001531Failure to thrive in infancy0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0001531HP:0001531Failure to thrive in infancy0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040281 - Very frequent445
HP:0001531HP:0001531Failure to thrive in infancy0RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional572
HP:0001531HP:0001531Failure to thrive in infancy0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0001531HP:0001531Failure to thrive in infancy0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent67
HP:0001531HP:0001531Failure to thrive in infancy0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent61
HP:0001531HP:0001531Failure to thrive in infancy0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent57
HP:0001531HP:0001531Failure to thrive in infancy0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001531HP:0001531Failure to thrive in infancy0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional2
HP:0001531HP:0001531Failure to thrive in infancy0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0001531HP:0001531Failure to thrive in infancy0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0001531HP:0001531Failure to thrive in infancy0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040282 - Frequent82
HP:0001531HP:0001531Failure to thrive in infancy0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0001531HP:0001531Failure to thrive in infancy0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0001531HP:0001531Failure to thrive in infancy0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040282 - Frequent11
HP:0001531HP:0001531Failure to thrive in infancy0SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional22
HP:0001531HP:0001531Failure to thrive in infancy0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001531HP:0001531Failure to thrive in infancy0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001531HP:0001531Failure to thrive in infancy0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001531HP:0001531Failure to thrive in infancy0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040282 - Frequent49
HP:0001531HP:0001531Failure to thrive in infancy0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0001531HP:0001531Failure to thrive in infancy0SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001531HP:0001531Failure to thrive in infancy0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001531HP:0001531Failure to thrive in infancy0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0001531HP:0001531Failure to thrive in infancy0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001531HP:0001531Failure to thrive in infancy0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional32
HP:0001531HP:0001531Failure to thrive in infancy0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional12
HP:0001531HP:0001531Failure to thrive in infancy0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0001531HP:0001531Failure to thrive in infancy0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001531HP:0001531Failure to thrive in infancy0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0001531HP:0001531Failure to thrive in infancy0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0001531HP:0001531Failure to thrive in infancy0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001531HP:0001531Failure to thrive in infancy0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2


Genes (130) :ABCC6 ABCD1 ATP7A BAZ1B BCL7B BPTF BRAF BUD23 CARS1 CD19 CD81 CD96 CLIP2 COG1 COG4 COG8 COPB2 COX5A CR2 CSF2RA CSF2RB CTNS DEAF1 DNAJC30 DYRK1A ECE1 EDN3 EDNRB EIF4H ELN ENPP1 ERBB2 ERBB3 ERCC1 FDFT1 FGFR1 FIG4 FKBP6 FLII FOXP1 FOXP3 GDNF GTF2I GTF2IRD1 GTF2IRD2 HADHA HADHB HBB HERC2 HPDL HRAS ICOS IL1RN IL2RA IPW IQSEC2 IRF2BP2 ITCH JAK3 KIF15 KRAS LIMK1 LTC4S MAGEL2 MAP2K1 MAP2K2 MCCC1 MCCC2 METTL27 MKRN3 MKRN3-AS1 MLXIPL MS4A1 MVK MYOD1 NCF1 NDUFA4 NFKB1 NFKB2 NPAP1 NRTN NSMCE3 OTULIN POLA1 PRKCD PSAT1 PSMB10 PSMD12 PTPN11 PUS3 PWAR1 PWRN1 PYGL RAC2 RAI1 RECQL4 RET RFC2 SCNN1A SCNN1B SCNN1G SEMA3C SEMA3D SETBP1 SLC16A2 SLC25A13 SLC30A9 SLC35A2 SLC39A8 SMO SNORD115-1 SNORD116-1 SON SP110 SPOP SREBF1 STX1A TBL2 TGFB3 TK2 TKFC TMEM270 TNFRSF13B TNFRSF13C TNFSF12 TOM1 UNC80 VPS13B VPS37D YARS1

Diseases (72) :ORPHA:51608 ORPHA:388 ORPHA:904 ORPHA:529962 ORPHA:1340 OMIM:163950 OMIM:618891 ORPHA:1572 ORPHA:1308 OMIM:611209 ORPHA:263501 OMIM:611182 OMIM:617800 OMIM:619064 ORPHA:264675 OMIM:219800 ORPHA:819 ORPHA:268261 OMIM:614104 OMIM:194050 OMIM:610758 OMIM:618156 ORPHA:2645 OMIM:216340 OMIM:613670 ORPHA:37042 ORPHA:746 ORPHA:231214 ORPHA:231226 OMIM:176270 OMIM:619026 ORPHA:3071 OMIM:612852 OMIM:606367 OMIM:613385 ORPHA:228426 ORPHA:35078 ORPHA:261323 OMIM:614037 OMIM:615547 ORPHA:6 OMIM:610377 OMIM:618975 OMIM:619065 OMIM:617241 OMIM:617099 OMIM:301220 ORPHA:284417 OMIM:619175 ORPHA:488627 OMIM:232700 OMIM:618987 ORPHA:477817 ORPHA:1225 OMIM:162300 ORPHA:171876 ORPHA:798 ORPHA:59 ORPHA:247598 OMIM:617595 ORPHA:356961 ORPHA:468699 ORPHA:500150 ORPHA:79124 OMIM:618829 OMIM:615582 ORPHA:254875 OMIM:618805 OMIM:619510 OMIM:616801 ORPHA:193 OMIM:619418
 

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