Human Phenotype Ontology 
Grandparent Node:
expandFunctional abnormality of male internal genitalia (HP:0000025)help
Parent Node:
expandAbnormal spermatogenesis (HP:0008669)help
..Starting node
..expandSpermatogenesis maturation arrest (HP:0031038)help
Term ID: 31038
Name: Spermatogenesis maturation arrest
Synonym: Meiotic maturation arrest of spermatogenesis
Definition: Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.
Comments:
Reference: HP:0031038
Genes and Diseases:
 
       Child Nodes:
........expandEarly spermatogenesis maturation arrest (HP:0031039) help
........expandLate spermatogenesis maturation arrest (HP:0031040) help

 Sister Nodes: 
..expandAzoospermia (HP:0000027) help
..expandOligospermia (HP:0000798) 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:0031038HP:0031038Spermatogenesis maturation arrest0M1AP CL E G H13095125183OMIM:619108SPERMATOGENIC FAILURE 48; SPGF48
HP:0031038HP:0031038Spermatogenesis maturation arrest0MOV10L1 CL E G H544567201OMIM:619878
HP:0031038HP:0031038Spermatogenesis maturation arrest0MSH5 CL E G H44397328OMIM:6199375
HP:0031038HP:0031038Spermatogenesis maturation arrest0PNLDC1 CL E G H15419721185OMIM:619528SPERMATOGENIC FAILURE 57; SPGF57
HP:0031038HP:0031038Spermatogenesis maturation arrest0RNF212 CL E G H28549827729OMIM:619673SPERMATOGENIC FAILURE 62; SPGF624
HP:0031038HP:0031038Spermatogenesis maturation arrest0SHOC1 CL E G H15840126535OMIM:619949
HP:0031038HP:0031038Spermatogenesis maturation arrest0STAG3 CL E G H1073411356OMIM:619672SPERMATOGENIC FAILURE 61; SPGF614
HP:0031038HP:0031038Spermatogenesis maturation arrest0SYCE1 CL E G H9342628852OMIM:616950Spermatogenic failure 154
HP:0031038HP:0031038Spermatogenesis maturation arrest0TERB1 CL E G H28384726675OMIM:619646SPERMATOGENIC FAILURE 60; SPGF60
HP:0031038HP:0031038Spermatogenesis maturation arrest0TERB2 CL E G H14564528520OMIM:619645SPERMATOGENIC FAILURE 59; SPGF59
HP:0031038HP:0031038Spermatogenesis maturation arrest0XRCC2 CL E G H751612829OMIM:619145SPERMATOGENIC FAILURE 50; SPGF50125
HP:0031038HP:0031038Spermatogenesis maturation arrest0ZMYND15 CL E G H8422520997OMIM:615842Spermatogenic failure 141
HP:0031038HP:0031039Early spermatogenesis maturation arrest1RNF212 CL E G H28549827729OMIM:619673SPERMATOGENIC FAILURE 62; SPGF624
HP:0031038HP:0031039Early spermatogenesis maturation arrest1SHOC1 CL E G H15840126535OMIM:619949
HP:0031038HP:0031039Early spermatogenesis maturation arrest1STAG3 CL E G H1073411356OMIM:619672SPERMATOGENIC FAILURE 61; SPGF614
HP:0031038HP:0031040Late spermatogenesis maturation arrest1ZMYND15 CL E G H8422520997OMIM:615842Spermatogenic failure 141


Genes (12) :M1AP MOV10L1 MSH5 PNLDC1 RNF212 SHOC1 STAG3 SYCE1 TERB1 TERB2 XRCC2 ZMYND15

Diseases (12) :OMIM:619108 OMIM:619878 OMIM:619937 OMIM:619528 OMIM:619673 OMIM:619949 OMIM:619672 OMIM:616950 OMIM:619646 OMIM:619645 OMIM:619145 OMIM:615842
 

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