Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 147 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 415 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ACADS CL E G H | 35 | 90 | ORPHA:26792 | Short chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 90 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | HP:0040283 - Occasional | | | 129 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ADCY6 CL E G H | 112 | 237 | ORPHA:2680 | Hypomyelination neuropathy-arthrogryposis syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:50251 | Pleural mesothelioma | HP:0040282 - Frequent | | | 184 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | HP:0040281 - Very frequent | | | 78 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | | | | 14 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CNTNAP1 CL E G H | 8506 | 8011 | ORPHA:2680 | Hypomyelination neuropathy-arthrogryposis syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 90 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 15 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 17 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DISC1 CL E G H | 27185 | 2888 | ORPHA:171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | . | | | 63 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040283 - Occasional | | | 26 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 151 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | EOMES CL E G H | 8320 | 3372 | ORPHA:171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | . | | | 3 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | | | | 12 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040282 - Frequent | | | 35 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | . | | | 175 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040281 - Very frequent | | | 175 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040281 - Very frequent | | | 175 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | HP:0040281 - Very frequent | | | 61 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040282 - Frequent | | | 407 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 37 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77260 | Gaucher disease type 2 | HP:0040282 - Frequent | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040282 - Frequent | | | 148 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 23 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619751 | STUVE-WIEDEMANN SYNDROME 2; STWS2 | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | | | | 6 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040283 - Occasional | | | 145 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | . | | | 42 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 27 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 23 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 41 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 92 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LGI4 CL E G H | 163175 | 18712 | ORPHA:2680 | Hypomyelination neuropathy-arthrogryposis syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 8 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | . | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040281 - Very frequent | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040282 - Frequent | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | HP:0040283 - Occasional | | | 6 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040284 - Very rare | | | 36 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | . | | | 36 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | . | HP:0003623 - Neonatal onset | | 51 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040281 - Very frequent | | | 53 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040282 - Frequent | | | 53 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | HP:0040283 - Occasional | | | 20 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | | | | 125 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | . | | | 40 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:613642 | Cardiomyopathy, dilated, 1gg | | | | 304 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040283 - Occasional | | | 64 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 51 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 33 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SIK1 CL E G H | 150094 | 11142 | OMIM:616341 | Deafness, autosomal dominant 67 | | | | 11 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC25A3 CL E G H | 5250 | 10989 | ORPHA:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | HP:0040281 - Very frequent | | | 24 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | . | | | 12 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040282 - Frequent | | | 18 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | | | | 28 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | HP:0040284 - Very rare | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | HP:0040283 - Occasional | | | 133 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040282 - Frequent | | | 101 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040282 - Frequent | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | . | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 1090 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 2738 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | HP:0040283 - Occasional | | | 66 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040282 - Frequent | | | 35 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040281 - Very frequent | | | 13 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | HP:0003623 - Neonatal onset | | 27 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | | | | 1 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | XPNPEP2 CL E G H | 7512 | 12823 | ORPHA:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | | 4 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 31 | | |
HP:0002098 | HP:0002098 | Respiratory distress | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | . | | | 39 | | |
HP:0002098 | HP:0030864 | Intercostal retractions | 1 | CL E G H | | | | | | | | | | |
HP:0002098 | HP:0030863 | Nasal flaring | 1 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0030863 | Nasal flaring | 1 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0002098 | HP:0030863 | Nasal flaring | 1 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002098 | HP:0004885 | Episodic respiratory distress | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |