Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Abnormality on pulmonary function testing (HP:0030878)help
Parent Node:
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Respiratory insufficiency (HP:0002093)help
Parent Node:
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Restrictive ventilatory defect (HP:0002091)help
..Starting node
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obsolete Restrictive deficit on pulmonary function testing (HP:0002111)help
Term ID: 2111
Name: obsolete Restrictive deficit on pulmonary function testing
Synonym:
Definition:
Comments:
Reference: HP:0002111
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11233954601278
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11213954601278
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0HES7 CL E G H84667613686Spondylocostal dysostosis 4, autosomal recessive613686C3150942OMIM17815977608059
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0HES7 CL E G H84667613686Spondylocostal dysostosis 4, autosomal recessive613686C3150942OMIM15615977608059
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MT-TL1 CL E G H4567663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17490590050
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MT-TL2 CL E G H4568663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17491590055
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MT-TN CL E G H4570663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17493590010
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MT-TS1 CL E G H4574663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17497590080
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MYH7 CL E G H4625324604ORPHA132927577160760
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MYH7 CL E G H4625324604ORPHA129607577160760
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SELENON CL E G H57190324604ORPHA150515999606210
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SELENON CL E G H57190324604ORPHA145415999606210
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM150515999606210
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM145415999606210
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM171810914604878
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM163310914604878
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SLC34A2 CL E G H10568265100PULMONARY ALVEOLAR MICROLITHIASIS265100C0155912OMIM16811020604217
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0SLC34A2 CL E G H10568265100PULMONARY ALVEOLAR MICROLITHIASIS265100C0155912OMIM15911020604217
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM116028423615521
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM112928423615521
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0TTN CL E G H7273178464ORPHA11902812403188840
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0TTN CL E G H7273178464ORPHA11798412403188840
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0TTN CL E G H7273324604ORPHA11902812403188840
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0TTN CL E G H7273324604ORPHA11798412403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MESP2 CL E G H145873608681Spondylocostal dysostosis 2608681C1837549OMIM028529659605195
HP:0002111HP:0002111obsolete Restrictive deficit on pulmonary function testing0MESP2 CL E G H145873608681Spondylocostal dysostosis 2608681C1837549OMIM025729659605195


Genes (18) :FKRP FRG1 HES7 MESP2 MT-TL1 MT-TL2 MT-TN MT-TS1 MYH7 SELENON SLC12A6 SLC34A2 STAC3 TRNL1 TRNL2 TRNN TRNS1 TTN

Diseases (12) :606612 607155 158900 613686 608681 324604 602771 218000 265100 255995 663 178464
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.