Phenotypes for disease #05303

36 entries on 1 page. Showing entries 1 - 36.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000085336 broad forehead (HP:0000337), euryblepharon (HP:0012905), lagophthalmos (HP:0030001), ectropion (HP:0000656), CL/P bilateral (HP:0000202), abnormal crown form (HP:?), everted lower lip (HP:0000232), sparse hair (HP:0008070), sclerocornea ODS (HP:0000647), hirsutism forehead (HP:0011335) - - Familial, autosomal dominant - - - - Sanne Savelberg 00106657
0000087131 -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; -HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; ?HP:0000696; ?HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Unknown - - - - Sanne Savelberg 00110525
0000087132 -HP:0002342; -HP:0000337; HP:0009890; -HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126 - - Familial, autosomal dominant - - - - Sanne Savelberg 00110512
0000087133 -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; -HP:0012905; HP:0030001; -HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Unknown - - - - Sanne Savelberg 00110513
0000087134 HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110514
0000087135 -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; ?HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110508
0000087136 -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110509
0000087137 HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; HP:0030084; HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Isolated (sporadic) - - - - Sanne Savelberg 00110523
0000087138 -HP:0002342; HP:0000337; HP:0009890; -HP:0000316; HP:0012905; HP:0030001; -HP:0000656; HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; -HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0025247 - - Isolated (sporadic) - - - - Sanne Savelberg 00110524
0000087139 -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0011800 - - Isolated (sporadic) - - - - Sanne Savelberg 00110531
0000087140 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0000202; HP:0000668; HP:0011077; HP:0000303; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0002023; -HP:0000821; HP:0045005; -HP:0012126; - - Unknown - - - - Sanne Savelberg 00110532
0000087141 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0000579; HP:0000202; HP:0000668; HP:0011077; HP:0000232; HP:0000303; HP:0000377; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0002023; HP:0000821; HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110533
0000087142 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0009755; HP:0000668; HP:0000696; HP:0000232; HP:0000303; -HP:0008070; -HP:0001792; -HP:0000951; HP:0002023; HP:0000821; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110534
0000087143 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; -HP:0009743; HP:0009755; HP:0000202; ?HP:0000668; -HP:0000696; -HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; -HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0000653; HP:0002236 - - Isolated (sporadic) - - - - Sanne Savelberg 00110515
0000087144 -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; HP:0000232; -HP:0000377; HP:0001159; HP:0008070; HP:0001792; HP:0002023; ?HP:0012126; - - Isolated (sporadic) - - - - Sanne Savelberg 00110527
0000087145 HP:0000316; HP:0012905; HP:0030001; HP:0000656; HP:0009743; HP:0000202; HP:0000668; HP:0000696; HP:0011077; HP:0000232; ?HP:0012126; - - Isolated (sporadic) - - - - Sanne Savelberg 00110528
0000087146 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; ?HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0000410 - - Isolated (sporadic) - - - - Sanne Savelberg 00110526
0000087147 -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; -HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; -HP:0002023; ?HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0002650 - - Isolated (sporadic) - - - - Sanne Savelberg 00110510
0000087148 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000656; -HP:0000579; HP:0009743; HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110516
0000087149 -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; ?HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110517
0000087150 -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110518
0000087151 -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110519
0000087152 -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Unknown - - - - Sanne Savelberg 00110520
0000087153 -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; -HP:0012905; -HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Familial, autosomal dominant - - - - Sanne Savelberg 00110521
0000087154 -HP:0002342; HP:0000337; -HP:0009890; -HP:0000316; -HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; - - Isolated (sporadic) - - - - Sanne Savelberg 00110522
0000087155 -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; HP:0000377; -HP:0001537/HP:0000023; HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; -HP:0002023; ?HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0010116 - - Isolated (sporadic) - - - - Sanne Savelberg 00110511
0000087156 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0000232; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0045005; ?HP:0012126; - - Unknown - - - - Sanne Savelberg 00110529
0000087157 -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0000232; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0045005; ?HP:0012126; - - Unknown - - - - Sanne Savelberg 00110530
0000187837 cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; syndactyly (1/2); no anal atresia; no neural tube defect; no hypothyroidism blepharocheilodontic syndrome BCDS-2 Unknown - - - - Johan den Dunnen 00248870
0000187838 cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism blepharocheilodontic syndrome BCDS-2 Isolated (sporadic) - - - - Johan den Dunnen 00248871
0000187839 cleft lip/palate (1/2); eyelid anomalies ectropion (2/2), euryblepharon (1/2), lagophthalmy (1/2), distichiasis (1/2); hair anomalies (1/2); conical teeth (2/2); tooth agenesis (2/2); no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism blepharocheilodontic syndrome BCDS-2 Familial, autosomal dominant - - - - Johan den Dunnen 00248872
0000187841 no cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; nail dysplasia; no vertex aplasia; choanal atresia; no syndactyly; anal atresia; no neural tube defect; hypothyroidism blepharocheilodontic syndrome BCDS-1 Unknown - - - - Johan den Dunnen 00248874
0000187842 cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; no hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism blepharocheilodontic syndrome BCDS-1 Isolated (sporadic) - - - - Johan den Dunnen 00248875
0000187843 cleft lip/palate (2/2); eyelid anomalies ectropion (2/2), euryblepharon (2/2), lagophthalmy (2/2), distichiasis (2/2); hair anomalies (2/2); conical teeth (2/2); tooth agenesis (2/2); nail dysplasia (2/2); no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; neural tube defect (2/2); no hypothyroidism blepharocheilodontic syndrome BCDS-1 Isolated (sporadic) - - - - Johan den Dunnen 00248877
0000187844 cleft lip/palate (2/2); eyelid anomalies ectropion (2/2), euryblepharon (2/2), lagophthalmy (2/2), distichiasis (2/2); hair anomalies (2/2); no conical teeth; tooth agenesis (2/2); nail dysplasia (1/2); vertex aplasia (2/2); no choanal atresia; syndactyly (1/2); anal atresia (1/2); no neural tube defect; no hypothyroidism blepharocheilodontic syndrome BCDS-1 Familial, autosomal dominant - - - - Johan den Dunnen 00248878
0000187845 cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism blepharocheilodontic syndrome BCDS-1 Unknown - - - - Johan den Dunnen 00248880
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