Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the thymus (HP:0000777)help
Parent Node:
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Aplasia/Hypoplasia of the thymus (HP:0010515)help
..Starting node
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Hypoplasia of the thymus (HP:0000778)help
Term ID: 778
Name: Hypoplasia of the thymus
Synonym: Small thymus; Thymic hypoplasia; Thymus hypoplasia
Definition: Underdevelopment of the thymus.
Comments:
Reference: HP:0000778
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia of the thymus (HP:0005359) 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:0000778HP:0000778Hypoplasia of the thymus0AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0000778HP:0000778Hypoplasia of the thymus0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0000778HP:0000778Hypoplasia of the thymus0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000778HP:0000778Hypoplasia of the thymus0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent6
HP:0000778HP:0000778Hypoplasia of the thymus0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0000778HP:0000778Hypoplasia of the thymus0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000778HP:0000778Hypoplasia of the thymus0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent8
HP:0000778HP:0000778Hypoplasia of the thymus0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent3
HP:0000778HP:0000778Hypoplasia of the thymus0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked.48
HP:0000778HP:0000778Hypoplasia of the thymus0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent2
HP:0000778HP:0000778Hypoplasia of the thymus0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0000778HP:0000778Hypoplasia of the thymus0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000778HP:0000778Hypoplasia of the thymus0NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosusHP:0040283 - Occasional3
HP:0000778HP:0000778Hypoplasia of the thymus0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000778HP:0000778Hypoplasia of the thymus0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000778HP:0000778Hypoplasia of the thymus0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional11
HP:0000778HP:0000778Hypoplasia of the thymus0PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosusHP:0040283 - Occasional
HP:0000778HP:0000778Hypoplasia of the thymus0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000778HP:0000778Hypoplasia of the thymus0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000778HP:0000778Hypoplasia of the thymus0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000778HP:0000778Hypoplasia of the thymus0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000778HP:0000778Hypoplasia of the thymus0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0000778HP:0000778Hypoplasia of the thymus0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0000778HP:0000778Hypoplasia of the thymus0RORC CL E G H609710260OMIM:616622Immunodeficiency 42.5
HP:0000778HP:0000778Hypoplasia of the thymus0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000778HP:0000778Hypoplasia of the thymus0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000778HP:0000778Hypoplasia of the thymus0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000778HP:0000778Hypoplasia of the thymus0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000778HP:0000778Hypoplasia of the thymus0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent32
HP:0000778HP:0000778Hypoplasia of the thymus0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000778HP:0000778Hypoplasia of the thymus0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000778HP:0000778Hypoplasia of the thymus0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0000778HP:0000778Hypoplasia of the thymus0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional26
HP:0000778HP:0000778Hypoplasia of the thymus0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndromeHP:0040283 - Occasional26
HP:0000778HP:0000778Hypoplasia of the thymus0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000778HP:0000778Hypoplasia of the thymus0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0000778HP:0000778Hypoplasia of the thymus0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6


Genes (35) :AK2 ARVCF ATM COMT DCLRE1C G6PC3 GP1BB HIRA IL2RG JMJD1C MCM10 NEK9 NKX2-6 NSMCE3 PEX5 PI4KA PLXND1 POLR1B POLR1C POLR1D POLR3A RAG1 RAG2 RORC RREB1 SEC24C SKIC2 SKIC3 TBX1 TCOF1 TP63 TTC7A UFD1 WAS WIPF1

Diseases (20) :OMIM:267500 ORPHA:567 OMIM:208900 OMIM:603554 OMIM:612541 OMIM:300400 OMIM:619313 OMIM:617022 ORPHA:3384 OMIM:617241 OMIM:214110 ORPHA:436252 ORPHA:861 OMIM:264090 OMIM:616622 ORPHA:84064 OMIM:188400 ORPHA:1896 OMIM:243150 ORPHA:906
 

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