Apnea

Symptom Information:

Symptom ID: HPO:0002104
Synonyms:
Absence of spontaneous respiration [HPO:0002104]
Apneic episodes [HPO:0002104]
Apnoea [HPO:0002104]
Stops breathing (finding) [Orphanet:33200]
Apnea (finding) [Orphanet:33200]
Apnea [Orphanet:33200]
Apnea [OMIM:Apnea]
Apneic episodes [OMIM:Apneic episodes]
Apnea/sleep apnea [Orphanet:33200]
Apnoea [Orphanet:33200]
Apnoea [MedDRA:10002974]
Apnea [MedDRA:10002974]
Absence of spontaneous respiration (severe form) [OMIM:Absence of spontaneous respiration (severe form)]
Apnea (central and obstructive) [OMIM:Apnea (central and obstructive)]
Apnea (severe form) [OMIM:Apnea (severe form)]
Quality:
Cross references:
Orphanet:33200 "Apnea/sleep apnea" [Orphanet:33200]
OMIM: "Apnea" [OMIM:Apnea]
OMIM: "Apneic episodes" [OMIM:Apneic episodes]
OMIM: "Absence of spontaneous respiration (severe form)" [OMIM:Absence of spontaneous respiration (severe form)]
OMIM: "Apnea (central and obstructive)" [OMIM:Apnea (central and obstructive)]
OMIM: "Apnea (severe form)" [OMIM:Apnea (severe form)]
UMLS:C1963065 "Apnea" [HPO:0002104]
UMLS:C0003578 "Apnea" [Orphanet:33200]
Is a (Direct Parents):
MedDRA Breathing abnormalities
HPO         Abnormal pattern of respiration
Orphanet Abnormality of the respiratory system
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the respiratory system(HPO:0002086)
          Functional respiratory abnormality(HPO:0002795)
             Abnormal pattern of respiration(HPO:0002793)
                Apnea(HPO:0002104)
MedDRA:
Respiratory, thoracic and mediastinal disorders(MedDRA:10038738)
    Respiratory disorders NEC(MedDRA:10038716)
       Breathing abnormalities(MedDRA:10006334)
          Apnea(HPO:0002104)
Database Frequency: 106 / 7739
Resource:

All diseases associated with this symptom:

16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17p11.2 microduplication syndrome (Orphanet:1713)
48,XXYY syndrome (Orphanet:10)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Achondroplasia (Orphanet:15)
Acromegaly (Orphanet:963)
Alexander disease (Orphanet:58)
Aortic arch defects (Orphanet:1132)
Argininemia (Orphanet:90)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Auriculocondylar syndrome (Orphanet:137888)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
BUTYRYLCHOLINESTERASE (OMIM:177400)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Biotinidase deficiency (Orphanet:79241)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CLN10 disease (Orphanet:228337)
Campomelic dysplasia (Orphanet:140)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Cherubism (Orphanet:184)
Cleidocranial dysplasia (Orphanet:1452)
Coffin-Lowry syndrome (Orphanet:192)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
Ehlers-Danlos syndrome, hypermobility type (Orphanet:285)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Fatal familial insomnia (Orphanet:466)
Fatal infantile hypertonic myofibrillar myopathy (Orphanet:280553)
Fetal Gaucher disease (Orphanet:85212)
Fructose-1,6-bisphosphatase deficiency (Orphanet:348)
Gaucher disease type 2 (Orphanet:77260)
Geleophysic dysplasia (Orphanet:2623)
Genitopatellar syndrome (Orphanet:85201)
HYPEREKPLEXIA 3 (OMIM:614618)
HYPOADRENOCORTICISM, FAMILIAL (OMIM:240200)
Haddad syndrome (Orphanet:99803)
Hereditary hyperekplexia (Orphanet:3197)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
Hypochondroplasia (Orphanet:429)
Infantile hypophosphatasia (Orphanet:247651)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Joubert syndrome (Orphanet:475)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
Leigh syndrome (Orphanet:506)
Leprechaunism (Orphanet:508)
MELAS (Orphanet:550)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Marshall-Smith syndrome (Orphanet:561)
Maternally-inherited Leigh syndrome (Orphanet:255210)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mucopolysaccharidosis type 1 (Orphanet:579)
NEMALINE MYOPATHY 2 (OMIM:256030)
Neonatal acute respiratory distress with surfactant metabolism deficiency (Orphanet:217563)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteopetrosis (Orphanet:2781)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Patent arterial duct (Orphanet:706)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Phosphoenolpyruvate carboxykinase 1 deficiency (Orphanet:79316)
Pitt-Hopkins syndrome (Orphanet:2896)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Primary familial polycythemia (Orphanet:90042)
Propionic acidemia (Orphanet:35)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Rett syndrome (Orphanet:778)
Riboflavin transporter deficiency (Orphanet:97229)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Saethre-Chotzen syndrome (Orphanet:794)
Schwartz-Jampel syndrome (Orphanet:800)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Stüve-Wiedemann syndrome (Orphanet:3206)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
TENORIO SYNDROME (OMIM:616260)
Wolfram syndrome 1 (OMIM:222300)