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2025-09-10
(HP:0000236 present): Abnormal anterior fontanelle morphology (HP:0003368 present): Abnormal femoral head morphology (HP:0003366 present): Abnormal femoral neck/head morphology
Abnormal anterior fontanelle morphology
HPO
HP:0000236
Abnormal femoral head morphology
HPO
HP:0003368
Abnormal femoral neck/head morphology
HPO
HP:0003366
2023-11-27
(HP:0000006 present): Autosomal dominant inheritance (HP:0000007 absent): Autosomal recessive inheritance (HP:0000518 present): Cataract (HP:0012622 present): Chronic kidney disease (HP:0032957 present): Dysmorphic hematuria (HP:0000563 present): Keratoconus (HP:0012587 present): Macroscopic hematuria (HP:0002907 present): Microscopic hematuria (HP:0000093 present): Proteinuria (HP:0000107 present): Renal cyst
Autosomal dominant inheritance
HPO
HP:0000006
Autosomal recessive inheritance
HPO
HP:0000007
Cataract
HPO
HP:0000518
Chronic kidney disease
HPO
HP:0012622
Dysmorphic hematuria
HPO
HP:0032957
Keratoconus
HPO
HP:0000563
Macroscopic hematuria
HPO
HP:0012587
Microscopic hematuria
HPO
HP:0002907
Proteinuria
HPO
HP:0000093
Renal cyst
HPO
HP:0000107
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