C001 phenome

|

377795 etiological subtype

definition

A subset of a disorder defined by its cause, and clinically indistinguishable from other etiological subtypes.

|

100050 Hereditary angioedema type 1

100051 Hereditary angioedema type 2

100054 Hereditary angioedema type 3

101049 Familial hypocalciuric hypercalcemia type 2

101050 Familial hypocalciuric hypercalcemia type 3

104077 Myopathic intestinal pseudoobstruction

104078 Unclassified intestinal pseudoobstruction

168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

168629 Autosomal thrombocytopenia with normal platelets

169615 Idiopathic central precocious puberty

169618 Secondary central precocious puberty

1707 Distal trisomy 15q

177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

177907 Prader-Willi syndrome due to translocation

177910 Prader-Willi syndrome due to imprinting mutation

178469 Autosomal dominant non-syndromic intellectual disability

178475 Wound botulism

181 X-linked hypohidrotic ectodermal dysplasia

1810 Autosomal dominant hypohidrotic ectodermal dysplasia

217023 Atypical hemolytic-uremic syndrome with thrombomodulin anomaly

228329 CLN1 disease

228337 CLN10 disease

228340 CLN4A disease

228343 CLN4B disease

228346 CLN3 disease

228349 CLN2 disease

228354 CLN8 disease

228357 CLN9 disease

228360 CLN5 disease

228363 CLN6 disease

228366 CLN7 disease

231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation

231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion

231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

231137 Silver-Russell syndrome due to 7p11.2p13 microduplication

231140 Silver-Russell syndrome due to an imprinting defect of 11p15

231144 Silver-Russell syndrome due to 11p15 microduplication

231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

238578 Familial clubfoot due to 17q23.1q23.2 microduplication

238613 Beckwith-Wiedemann syndrome due to NSD1 mutation

247839 Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies

247846 Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies

247854 Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies

247861 Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies

248 Autosomal recessive hypohidrotic ectodermal dysplasia

2512 Autosomal recessive primary microcephaly

2514 Autosomal dominant primary microcephaly

254525 Paternal 14q32.2 microdeletion syndrome

254528 Maternal 14q32.2 microdeletion syndrome

254531 Paternal 14q32.2 hypomethylation syndrome

254534 Maternal 14q32.2 hypermethylation syndrome

261537 Mowat-Wilson syndrome due to monosomy 2q22

261552 Mowat-Wilson syndrome due to a ZEB2 point mutation

261559 Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

261572 Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

261579 Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

261584 Familial adenomatous polyposis due to 5q22.2 microdeletion

261600 Alagille syndrome due to 20p12 microdeletion

261619 Alagille syndrome due to a JAG1 point mutation

261629 Alagille syndrome due to a NOTCH2 point mutation

261638 Okihiro syndrome due to 20q13 microdeletion

261647 Okihiro syndrome due to a point mutation

261652 Kleefstra syndrome due to a point mutation

275766 Idiopathic pulmonary arterial hypertension

275777 Heritable pulmonary arterial hypertension

293144 Familial clubfoot due to 5q31 microdeletion

293150 Familial clubfoot due to PITX1 point mutation

293633 PYCR1-related De Barsy syndrome

300525 Pseudohypoaldosteronism type 2D

300530 Pseudohypoaldosteronism type 2E

306588 Autosomal dominant Opitz G/BBB syndrome

306597 X-linked Opitz G/BBB syndrome

308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

309789 Rhizomelic chondrodysplasia punctata type 1

309796 Rhizomelic chondrodysplasia punctata type 2

309803 Rhizomelic chondrodysplasia punctata type 3

314588 Distal tetrasomy 15q

314629 CLN11 disease

314697 Acquired porencephaly

319205 Bilateral massive adrenal hemorrhage

319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion

352709 CLN13 disease

353327 Congenital myasthenic syndromes with glycosylation defect

35664 ALDH18A1-related De Barsy syndrome

357008 Atypical hemolytic-uremic syndrome with DGKE deficiency

363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

363958 17q21.31 microdeletion syndrome

363965 Koolen-De Vries syndrome due to a point mutation

397590 Silver-Russell syndrome due to a point mutation

398069 Prader-Willi syndrome due to a point mutation

411511 Angelman syndrome due to a point mutation

411515 Angelman syndrome due to imprinting defect in 15q11-q13

448348 X-linked acrogigantism due to a point mutation

448372 X-linked acrogigantism due to Xq26 microduplication

453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation

468717 Rhizomelic chondrodysplasia punctata type 5

481986 Familial schizencephaly

485275 Acquired schizencephaly

777 X-linked non-syndromic intellectual disability

79269 Sanfilippo syndrome type A

79270 Sanfilippo syndrome type B

79271 Sanfilippo syndrome type C

79272 Sanfilippo syndrome type D

852 X-linked thrombocytopenia with normal platelets

88616 Autosomal recessive non-syndromic intellectual disability

88917 X-linked Alport syndrome

88918 Autosomal dominant Alport syndrome

88919 Autosomal recessive Alport syndrome

88938 Pseudohypoaldosteronism type 2A

88939 Pseudohypoaldosteronism type 2B

88940 Pseudohypoaldosteronism type 2C

90309 Ehlers-Danlos syndrome type 1

90318 Ehlers-Danlos syndrome type 2

90625 X-linked non-syndromic sensorineural deafness type DFN

90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA

90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

90641 Mitochondrial non-syndromic sensorineural deafness

93324 Autosomal recessive Kenny-Caffey syndrome

93325 Autosomal dominant Kenny-Caffey syndrome

93372 Familial hypocalciuric hypercalcemia type 1

93554 Type II mixed cryoglobulinemia

93555 Mixed cryoglobulinemia type III

93575 Atypical hemolytic-uremic syndrome with C3 anomaly

93576 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

93578 Atypical hemolytic-uremic syndrome with B factor anomaly

93579 Atypical hemolytic-uremic syndrome with H factor anomaly

93580 Atypical hemolytic-uremic syndrome with I factor anomaly

93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies

93601 Xanthinuria type I

93602 Xanthinuria type II

93612 Cystinuria type A

93613 Cystinuria type B

96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication

96147 Kleefstra syndrome due to 9q34 microdeletion

96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

96184 Maternal uniparental disomy of chromosome 14

96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

96334 Paternal uniparental disomy of chromosome 14

97367 Renal tubular dysgenesis due to twin-twin transfusion

97368 Drug-related renal tubular dysgenesis

97369 Renal tubular dysgenesis of genetic origin

98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

98793 Prader-Willi syndrome due to paternal 15q11q13 deletion 2

98794 Angelman syndrome due to maternal 15q11q13 deletion

98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15

98853 Autosomal dominant Emery-Dreifuss muscular dystrophy

98855 Autosomal recessive Emery-Dreifuss muscular dystrophy

98863 X-linked Emery-Dreifuss muscular dystrophy

98885 Bleeding diathesis due to glycoprotein VI deficiency

98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency

98913 Postsynaptic congenital myasthenic syndromes

98914 Presynaptic congenital myasthenic syndromes

98915 Synaptic congenital myasthenic syndromes

99226 Monosomy X

99228 Mosaic monosomy X

99413 Turner syndrome due to structural X chromosome anomalies

99763 Familial hyperreninemic hypoaldosteronism type 1

99764 Familial hyperreninemic hypoaldosteronism type 2

99810 Familial porencephaly

99811 Neuronal intestinal pseudoobstruction

99875 Ehlers-Danlos syndrome type 7A

99876 Ehlers-Danlos syndrome type 7B

99903 Spirillary rat-bite fever

99905 Streptobacillary rat-bite fever

99918 Streptococcal toxic-shock syndrome

99919 Staphylococcal toxic-shock syndrome