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Top SNP Information Show Table

Associated Phenotypes ^ⓘ Shared SNP phenotypes No shared SNP phenotypes

ID	Name	Top Correlation
HP: 0000356	Abnormality of the outer ear	4/20
HP: 0000363	Abnormality of earlobe	8/20
HP: 0000377	Abnormality of the pinna	8/20
HP: 0000743	Frontal release signs	19/20
HP: 0001218	Autoamputation	18/20
HP: 0003207	Arterial calcification	8/20
HP: 0004417	Intermittent claudication	8/20
HP: 0004934	Vascular calcification	8/20
HP: 0004950	Peripheral arterial stenosis	8/20
HP: 0005185	Global systolic dysfunction	20/20
HP: 0005344	Abnormal carotid artery morphology	8/20
HP: 0006121	Acral ulceration	18/20
HP: 0006673	Reduced systolic function	17/20
HP: 0007460	Autoamputation of digits	18/20
HP: 0008112	Plantar flexion contractures	18/20
HP: 0008366	Contractures involving the joints of the feet	8/20
HP: 0009908	Anterior creases of earlobe	8/20
HP: 0010766	Ectopic calcification	1/20
HP: 0011004	Abnormal systemic arterial morphology	8/20
HP: 0011301	Absent foot	19/20
HP: 0011915	Cardiovascular calcification	8/20
HP: 0012456	Medial arterial calcification	17/20
HP: 0012639	Abnormal nervous system morphology	1/20
HP: 0025323	Abnormal arterial physiology	8/20
HP: 0030163	Abnormal vascular physiology	8/20
HP: 0030680	Abnormality of cardiovascular system morphology	2/20
HP: 0031293	Digital pitting scar	3/20
HP: 0031917	Digital ulcer	18/20
HP: 0100324	Scleroderma	4/20
HP: 0100545	Arterial stenosis	8/20
HP: 0100546	Carotid artery stenosis	14/20
HP: 0100758	Gangrene	8/20
HP: 0200042	Skin ulcer	13/20
HP: 0550003	Proximal scleroderma	6/20

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000478	Abnormality of the eye	0/20
HP: 0000504	Abnormality of vision	0/20
HP: 0000505	Visual impairment	0/20
HP: 0000598	Abnormality of the ear	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000708	Behavioral abnormality	0/20
HP: 0000759	Abnormal peripheral nervous system morphology	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0000961	Cyanosis	0/20
HP: 0000988	Skin rash	0/20
HP: 0001005	Dermatological manifestations of systemic disorders	0/20
HP: 0001063	Acrocyanosis	0/20
HP: 0001072	Thickened skin	0/20
HP: 0001117	Sudden loss of visual acuity	0/20
HP: 0001123	Visual field defect	0/20
HP: 0001155	Abnormality of the hand	0/20
HP: 0001167	Abnormality of finger	0/20
HP: 0001371	Flexion contracture	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001760	Abnormality of the foot	0/20
HP: 0001871	Abnormality of blood and blood-forming tissues	0/20
HP: 0001977	Abnormal thrombosis	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002577	Abnormality of the stomach	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002638	Superficial thrombophlebitis	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002795	Functional respiratory abnormality	0/20
HP: 0002813	Abnormality of limb bone morphology	0/20
HP: 0002814	Abnormality of the lower limb	0/20
HP: 0002817	Abnormality of the upper limb	0/20
HP: 0003011	Abnormality of the musculature	0/20
HP: 0003121	Limb joint contracture	0/20
HP: 0003474	Sensory impairment	0/20
HP: 0003549	Abnormality of connective tissue	0/20
HP: 0003761	Calcinosis	0/20
HP: 0004295	Abnormality of the gastric mucosa	0/20
HP: 0004386	Gastrointestinal inflammation	0/20
HP: 0004418	Thrombophlebitis	0/20
HP: 0004936	Venous thrombosis	0/20
HP: 0005246	Giant hypertrophic gastritis	0/20
HP: 0005263	Gastritis	0/20
HP: 0005750	Contractures of the joints of the lower limbs	0/20
HP: 0006493	Aplasia/hypoplasia involving bones of the lower limbs	0/20
HP: 0006494	Aplasia/Hypoplasia involving bones of the feet	0/20
HP: 0007663	Reduced visual acuity	0/20
HP: 0009115	Aplasia/hypoplasia involving the skeleton	0/20
HP: 0009815	Aplasia/hypoplasia of the extremities	0/20
HP: 0009830	Peripheral neuropathy	0/20
HP: 0010832	Abnormality of pain sensation	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0011024	Abnormality of the gastrointestinal tract	0/20
HP: 0011025	Abnormal cardiovascular system physiology	0/20
HP: 0011121	Abnormality of skin morphology	0/20
HP: 0011122	Abnormality of skin physiology	0/20
HP: 0011123	Inflammatory abnormality of the skin	0/20
HP: 0011297	Abnormal digit morphology	0/20
HP: 0011354	Generalized abnormality of skin	0/20
HP: 0011355	Localized skin lesion	0/20
HP: 0011729	Abnormality of joint mobility	0/20
HP: 0011805	Abnormal skeletal muscle morphology	0/20
HP: 0011838	Sclerodactyly	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011843	Abnormality of skeletal physiology	0/20
HP: 0011844	Abnormal appendicular skeleton morphology	0/20
HP: 0012089	Arteritis	0/20
HP: 0012373	Abnormal eye physiology	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0012647	Abnormal inflammatory response	0/20
HP: 0012649	Increased inflammatory response	0/20
HP: 0012718	Morphological abnormality of the gastrointestinal tract	0/20
HP: 0012719	Functional abnormality of the gastrointestinal tract	0/20
HP: 0025015	Abnormal vascular morphology	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025032	Abnormality of digestive system physiology	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0025131	Finger swelling	0/20
HP: 0025142	Constitutional symptom	0/20
HP: 0025300	Malar rash	0/20
HP: 0030531	Altitudinal visual field defect	0/20
HP: 0030880	Raynaud phenomenon	0/20
HP: 0031703	Abnormal ear morphology	0/20
HP: 0040064	Abnormality of limbs	0/20
HP: 0040068	Abnormality of limb bone	0/20
HP: 0040069	Abnormal lower limb bone morphology	0/20
HP: 0045060	Aplasia/hypoplasia involving bones of the extremities	0/20
HP: 0100022	Abnormality of movement	0/20
HP: 0100261	Abnormal tendon morphology	0/20
HP: 0100276	Skin pit	0/20