Expand all

Visit date	Records	Modify	Copy to clipboard
2024-05-16		(ORPHA:1899 present): Arthrochalasia Ehlers-Danlos syndrome (HP:0040127 present): Abnormal sweat homeostasis (HP:0410401 present): Worse in evening (modifies 40127) (OMIM:619120 present): COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2
	Arthrochalasia Ehlers-Danlos syndromeOrphanet	ORPHA:1899
	Worse in evening (modifies 40127)HPO	HP:0410401
	Abnormal sweat homeostasisHPO	HP:0040127
	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2OMIM	OMIM:619120
2023-11-23		(HP:0002076 present): Migraine
	MigraineHPO	HP:0002076
2023-06-05		(HP:0002076 present): Migraine
	MigraineHPO	HP:0002076
2023-02-03		(HP:0030440 present): Anal margin neoplasm
	Anal margin neoplasmHPO	HP:0030440
2023-01-01		(HP:0002457 present): Abnormal head movements (HP:0003366 present): Abnormal femoral neck/head morphology (HP:0003368 present): Abnormal femoral head morphology
	Abnormal head movementsHPO	HP:0002457
	Abnormal femoral neck/head morphologyHPO	HP:0003366
	Abnormal femoral head morphologyHPO	HP:0003368
2022-11-22		(HP:0000245 present): Abnormal paranasal sinus morphology (HP:0003368 present): Abnormal femoral head morphology
	Abnormal paranasal sinus morphologyHPO	HP:0000245
	Abnormal femoral head morphologyHPO	HP:0003368
2022-11-03		(HP:0005003 absent): Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0010574 present): Abnormality of the epiphysis of the femoral head
	Aplasia/Hypoplasia of the capital femoral epiphysisHPO	HP:0005003
	Abnormality of the epiphysis of the femoral headHPO	HP:0010574
2022-06-01		(HP:0005003 absent): Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0010574 present): Abnormality of the epiphysis of the femoral head
	Aplasia/Hypoplasia of the capital femoral epiphysisHPO	HP:0005003
	Abnormality of the epiphysis of the femoral headHPO	HP:0010574
2022-02-01		(ORPHA:247691 present): Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (HP:0000112 present): Nephropathy (HP:0002076 present): Migraine (HP:0012624 present): Stage 2 chronic kidney disease (HP:0030880 present): Raynaud phenomenon
	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsOrphanet	ORPHA:247691
	NephropathyHPO	HP:0000112
	MigraineHPO	HP:0002076
	Stage 2 chronic kidney diseaseHPO	HP:0012624
	Raynaud phenomenonHPO	HP:0030880
2022-01-02		(ALPHA:126092 absent): SUNCT [Short lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing]-Syndrom (ORPHA:86820 present): Familial avascular necrosis of femoral head (HP:0003368 present): Abnormal femoral head morphology (OMIM:602402 present): FORKHEAD BOX C2; FOXC2
	SUNCT [Short lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing]-SyndromDIMDI	ALPHA:126092
	Familial avascular necrosis of femoral headOrphanet	ORPHA:86820
	Abnormal femoral head morphologyHPO	HP:0003368
	FORKHEAD BOX C2; FOXC2OMIM	OMIM:602402