Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Post-partum he... |
OMIM:619130 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ristocetin-induced platelet aggregation, Prolo... |
OMIM:619267 |
Glanzmann Thrombasthenia 1 |
|
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Gingi... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... |
OMIM:619271 |
Glanzmann Thrombasthenia |
|
Impaired thrombin-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
ORPHA:849 |
Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... |
ORPHA:280397 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggre... |
OMIM:173590 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Macrothrombocytopenia, Abnormality of the kidney, Bruising susceptibility, Impaired epinephrine-i... |
OMIM:155100 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, M... |
OMIM:124900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal bleeding, Spl... |
ORPHA:231393 |
Athrombia, Essential |
|
Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time, Abnormal blee... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Anemia, Giant platelets, Abnormal bleeding, Impaired platelet aggregation,... |
OMIM:187800 |
Hermansky-Pudlak Syndrome 3 |
|
Gingival bleeding, Bruising susceptibility, Albinism, Abnormal bleeding, Hypopigmentation of the ... |
OMIM:614072 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... |
OMIM:614076 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired ristocetin-induced platelet aggregation, Epistaxis, Bruising susceptibility, Abnormal pl... |
OMIM:614201 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, BCGitis, Recurrent oral herpes, Reduced natural killer cell act... |
OMIM:615707 |
Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Hypopigmentation of the fundus, Abnormal platelet aggregation, Hypopigmentation of th... |
OMIM:614171 |
Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Gingival bleeding, Prolo... |
OMIM:231200 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Recurrent tonsillitis, Melanin pigment aggregation in... |
OMIM:214450 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding after dental extraction, Bruising susceptibility, Impaired epinephrine-induced... |
OMIM:615888 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Epistaxis, Bruising susceptibility, Albinism, Impaired ADP-induced plate... |
OMIM:614074 |
Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... |
OMIM:187950 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding |
OMIM:608404 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Reduced platelet dense granules, Gingival bleeding, Epistaxis, Impaired ... |
OMIM:619172 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage |
OMIM:618462 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 21 |
|
Menorrhagia, Alopecia, Impaired platelet aggregation, Thrombocytopenia, Impaired ADP-induced plat... |
OMIM:617443 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Albinism, Abnormal platelet granules, Ecchymosis, Hypopigmentation of th... |
OMIM:614075 |
Bleeding Disorder, Platelet-Type, 8 |
|
Bruising susceptibility, Persistent bleeding after trauma, Ecchymosis, Prolonged bleeding after s... |
OMIM:609821 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding |
OMIM:173420 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections |
OMIM:614493 |
Nephronophthisis |
|
Renal insufficiency, Anemia, Abnormality of retinal pigmentation |
ORPHA:655 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent viral infections, Rec... |
OMIM:308220 |
Von Willebrand Disease, Type 3 |
|
Bruising susceptibility, Persistent bleeding after trauma, Menorrhagia, Joint hemorrhage, Prolong... |
OMIM:277480 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia, Abnormal bleeding |
OMIM:188030 |
Myh9-Related Disease |
|
Proteinuria, Bruising susceptibility, Congenital thrombocytopenia, Renal insufficiency, Nephropat... |
ORPHA:182050 |
Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
Bleeding Disorder, Platelet-Type, 17 |
|
Macrothrombocytopenia, Epistaxis, Bruising susceptibility, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Bruising susceptibility, Abnormal alpha granule content, Impaired plate... |
OMIM:601399 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Bruising susceptibility, Hemolytic anemia, Reduced platelet alpha granules, Incr... |
OMIM:314050 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Bruising susceptibility, Menorrhagia, ... |
OMIM:139090 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis, Bruising susceptibility |
OMIM:188000 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Gingival bleeding, Prolonged bleeding after den... |
OMIM:153670 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Recurrent bacterial meningitis, Decreased circulating IgA level,... |
OMIM:300400 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Bruising susceptibility,... |
OMIM:614009 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia |
OMIM:606574 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Hypopigmentation of the fundus, Generalized hypopigmentation, White eyelashes, White... |
OMIM:103500 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
Slc35A1-Cdg |
|
Abnormal platelet granules, Giant platelets, Thrombocytopenia, Abnormal bleeding, Pulmonary hemor... |
ORPHA:238459 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Recurrent... |
OMIM:607624 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation o... |
OMIM:126070 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... |
OMIM:615008 |
Quebec Platelet Disorder |
|
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Thr... |
OMIM:601709 |
Hermansky-Pudlak Syndrome 8 |
|
Blue irides, Hypoplasia of the fovea, Gingival bleeding, Epistaxis, Bruising susceptibility, Gene... |
OMIM:614077 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding |
OMIM:188025 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... |
OMIM:619191 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... |
ORPHA:2585 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Aplasia of the eccrine sweat glands, Increased circulating IgA level, Severe cytomegalovirus infe... |
OMIM:300291 |
Oliver-Mcfarlane Syndrome |
|
Cryptorchidism, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Alopecia, Hypoplas... |
OMIM:275400 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections |
ORPHA:90023 |
Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib-IX-V, Gingival bleeding, Impaired risto... |
ORPHA:274 |
Chorea, Benign Hereditary |
|
Anxiety, Dementia, Gait disturbance |
OMIM:118700 |
Tietz Syndrome |
|
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... |
OMIM:619165 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Abnormal reticulocyte morphology, Macr... |
OMIM:300835 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Congenital stationary night blindness, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia, Melanocytic nevus |
ORPHA:3319 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia, Menorrhagia, Spontaneous hematomas, Thrombocytopenia, Abnormal ble... |
OMIM:616176 |
Bleeding Disorder, Platelet-Type, 12 |
|
Bruising susceptibility, Joint hemorrhage, Impaired platelet aggregation, Intestinal bleeding, Me... |
OMIM:605735 |
Von Willebrand Disease, Type 1 |
|
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... |
OMIM:193400 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Choroideremia |
|
Granular macular appearance, Hypopigmentation of the fundus, Retinal pigment epithelial mottling,... |
OMIM:303100 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation, Hypoglycemia |
ORPHA:67048 |
Homocarnosinosis |
|
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Hermansky-Pudlak Syndrome 1 |
|
Freckling, Gingival bleeding, Hematochezia, Bruising susceptibility, Renal insufficiency, Albinis... |
OMIM:203300 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria |
ORPHA:2134 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Phenylketonuria |
|
Blue irides, Cataract, Self-mutilation, Hyperphenylalaninemia, Generalized hypopigmentation, Mate... |
OMIM:261600 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Freckles in sun-exposed are... |
OMIM:203200 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Aberrant melanosome maturation, Generalized hypopigm... |
OMIM:608233 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia, Retinal nonattachment, Vitelliform-like macular lesions |
ORPHA:99000 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... |
OMIM:605258 |
Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... |
ORPHA:370097 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia, Hematuria, Abnormal bleeding |
OMIM:314000 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Hypoplasia of the fovea, Blue irides, Iris hypopigmentation, Generalized hypo... |
ORPHA:352731 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Premature graying of hair, White hair, Hyperlipidemia, Partial albinism, R... |
ORPHA:79476 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... |
OMIM:619374 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hyperlipidemia, Hypopigmentat... |
ORPHA:79477 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Candida esophagitis, Reduced na... |
OMIM:619281 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis |
OMIM:614158 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... |
ORPHA:97341 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Thrombocytopenia, Abnormal bleeding, Epistaxis, Splenomegaly, Abnormalit... |
ORPHA:721 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Huntington Disease-Like 1 |
|
Unsteady gait, Restlessness, Anxiety, Dementia, Aggressive behavior, Depression, Dysmetria |
OMIM:603218 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia |
OMIM:146200 |
Malaria |
|
Retinopathy, Thrombocytopenia, Acute kidney injury, Anemia |
ORPHA:673 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bruising susceptibility, Bone marrow hypocellularity, ... |
ORPHA:3226 |
Giant platelet syndrome with thrombocytopenia |
|
Prolonged bleeding after dental extraction, Bruising susceptibility, Giant platelets, Gastrointes... |
OMIM:137560 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Aminoac... |
OMIM:603585 |
Storage Pool Platelet Disease |
|
Acute leukemia, Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding |
OMIM:185050 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Factor V Deficiency |
|
Prolonged prothrombin time, Bruising susceptibility, Menorrhagia, Abnormal bleeding, Epistaxis, P... |
OMIM:227400 |
Woolly Hair Nevus |
|
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... |
ORPHA:79414 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Acute kidney injury, Decreased circulating IgA level, Lymphopeni... |
ORPHA:859 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... |
OMIM:193510 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Leukemia, Multiple cafe-au-lait spots, Thrombocytopenia, Neutropenia |
OMIM:614082 |
Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Iris hypopigmentation, Leukopenia, Abnormal eyelash mor... |
ORPHA:381 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormal calcium-phosphate regulating hormone level, Nephropathy, Abnormality of retinal pigmenta... |
ORPHA:2196 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:277580 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... |
ORPHA:98879 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reticulocytosis, Anemia, Chronic hemolytic anemia, Giant platelets, Im... |
OMIM:210250 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... |
ORPHA:79435 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Absent isohemagglutinin level, Increased circulating antibody... |
OMIM:615559 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy, Hemolytic anemia, Neutro... |
OMIM:266130 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Nephrotic syndrome |
OMIM:613606 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal hair quantity, Polycystic ovaries, Cognitive impairment, Hyperphosphatemia, Alopecia, Mu... |
ORPHA:457059 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia |
OMIM:613554 |
Autoimmune Hypoparathyroidism |
|
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia, Conjunct... |
ORPHA:36913 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormal platelet morphology, Prolonged bleeding time, Splenomegaly, Abnormality ... |
ORPHA:3318 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Optic nerve misrouting, Generalized hypopigmentati... |
ORPHA:79433 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... |
ORPHA:79432 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Macular degeneration, Retinal degene... |
ORPHA:85128 |
Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation |
ORPHA:35612 |
Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Microscopic hematuria, Prolonged bleeding after dental extraction, An... |
ORPHA:325 |
Neurofibromatosis-Noonan Syndrome |
|
Multiple cafe-au-lait spots, Prolonged bleeding time |
ORPHA:638 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Thrombocytop... |
ORPHA:158029 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Apathy, Falls, Short stepped shuffling gait, Anxiety, Motor deterioration... |
ORPHA:412066 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding |
ORPHA:1059 |
Woolly Hair |
|
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... |
ORPHA:170 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentatio... |
ORPHA:177910 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Meningitis, Reduced natural killer cell activity, Increased cir... |
OMIM:308240 |
Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent sinusiti... |
OMIM:613101 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Abnormal bleeding |
ORPHA:517 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:607921 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hypogonadism, Cognitive impairment, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany |
OMIM:612462 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic neuropathy, Decreased circulating antibody level, Optic atrophy, Abnorm... |
OMIM:604928 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613582 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody level, Anemia, Enlarged ... |
OMIM:615285 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the fovea, Mental deterioration,... |
ORPHA:2611 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia, Giant mel... |
OMIM:214500 |
Prothrombin Deficiency, Congenital |
|
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Joint hemorrhage, Ecchymo... |
OMIM:613679 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Abnormal bleeding, Thrombocytopenia, ... |
ORPHA:231401 |
Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Splenomegaly, Absent axillary hair, Sea-blue histiocytosis |
OMIM:269600 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... |
ORPHA:69736 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Chronic kidney disease, Nephronophthisis, Abnormality of retinal ... |
ORPHA:3156 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency, Thrombocytopenia |
ORPHA:3327 |
Oculocutaneous Albinism |
|
Hypoplasia of the fovea, Iris hypopigmentation, Hypopigmentation of the fundus, Iris coloboma, Ge... |
ORPHA:55 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Cognitive impairment, Synophrys, Abnormality of retinal pig... |
ORPHA:1390 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Tonne-Kalscheuer Syndrome |
|
Blue irides, Decreased testicular size, Cryptorchidism, Micropenis, Fine hair, Anxiety, Concave n... |
OMIM:300978 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia |
OMIM:133180 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... |
ORPHA:895 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Hypogonadism, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Anxiety, Iris hypopigmentation |
ORPHA:231183 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Anxiety, Optic disc pallor, Retinal thinning |
OMIM:618970 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Hypotrichosis 8 |
|
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Gingival bleeding, Hemophagocytosis, Large clumps of pigment irregularly ... |
ORPHA:167 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Polycystic ovaries, Premature graying of hair, Cognitive impairment, Lymphopen... |
ORPHA:100 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lymphocytosis, Insulin resistance |
ORPHA:79087 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Cryptorchidism, Diabetes mellitus, Red hair, Fair hair, Hypospadias |
OMIM:614613 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Thrombotic Thrombocytopenic Purpura |
|
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Renal insuf... |
ORPHA:54057 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Optic ... |
OMIM:598500 |
Methionine Malabsorption Syndrome |
|
Blue irides, Positive ferric chloride test, White hair |
OMIM:250900 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:614181 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abn... |
ORPHA:1433 |
Retinitis Pigmentosa 4 |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613731 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... |
ORPHA:67042 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyelash morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal ey... |
ORPHA:2885 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Zika Virus Disease |
|
Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi... |
ORPHA:448237 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154275 |
Autosomal Dominant Hypocalcemia |
|
Emotional lability, Irregular hyperpigmentation, Anxiety, Abnormality of the nail, Hyperphosphate... |
ORPHA:428 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Happy demeanor |
ORPHA:411515 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Hypogonadism, Optic disc pallor, Abnormality of macular pigmentation, Aggr... |
ORPHA:97229 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... |
OMIM:613428 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati... |
OMIM:251270 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154276 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Papilledema, Retinal calcification, Hyperphosphatemia, Transient hypophosphatemia, Hypoca... |
OMIM:127000 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... |
OMIM:614500 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Acute leukemia, Glomerulopathy, Hemolytic anemia, Intracranial hemorrhage, Epi... |
ORPHA:906 |
Wt Limb-Blood Syndrome |
|
Irregular hyperpigmentation, Leukemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:194350 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Freckling, Abnormal macular morphology, Iris hypopigmentation, Astigmati... |
ORPHA:54 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:617871 |
Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia, Abnormality of retinal pigmentation |
ORPHA:858 |
Usher Syndrome Type 1 |
|
Cataract, Anxiety, Iris hypopigmentation |
ORPHA:231169 |
Thrombocytopenia 5 |
|
Epistaxis, Bruising susceptibility, Anemia, Increased mean corpuscular volume, Thrombocytopenia, ... |
OMIM:616216 |
Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
Niemann-Pick Disease, Type B |
|
Abnormal macular morphology, Anemia, Bone-marrow foam cells, Sea-blue histiocytosis, Thrombocytop... |
OMIM:607616 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Gastrointestinal hemorrhage, Hematuria, Internal hemorrhage, Prolonged bleedin... |
ORPHA:90308 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disea... |
OMIM:612925 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Eem Syndrome |
|
Sparse body hair, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystrophy, Retinop... |
ORPHA:1897 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
Autoerythrocyte Sensitization Syndrome |
|
Bruising susceptibility, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Intracrani... |
ORPHA:324636 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... |
OMIM:613750 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Abnormal eyebrow morphology, Synophrys, Premature graying of hair, A... |
ORPHA:897 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Hyperuricemia, Anxiety, Hyperphosphatemia, Elevated circulating creatine kinase con... |
ORPHA:94093 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... |
OMIM:617123 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyelash morphology, Vitiligo, Hypopigmented skin patches, Abnormal eyebrow morphology, C... |
ORPHA:3437 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... |
ORPHA:79434 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy |
ORPHA:75373 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Leukopenia, Autoimmune thrombocytopenia, Alopecia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Neuroectodermal Melanolysosomal Disease |
|
Aplasia/Hypoplasia of the macula, Premature graying of hair, Hypopigmentation of the skin, Hypopi... |
ORPHA:33445 |
Immune Thrombocytopenia |
|
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Thrombocytopenia, Gastr... |
ORPHA:3002 |
Achromatopsia |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... |
ORPHA:49382 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:619041 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Iris hypopigmentation, Generalized hypopigmentation, Hypochromic anemia, Abnormality of... |
ORPHA:2720 |
Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... |
ORPHA:96369 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration |
OMIM:520000 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia, Retinal degeneration, Angioid streaks of the... |
OMIM:239000 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Hypopigmented skin patches, Synophrys, Premature graying of hair, Partial albinism, ... |
OMIM:148820 |
Polycythemia Vera |
|
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Gastrointestinal ... |
OMIM:263300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612926 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypertrichosis, Postprandial hyperglycemia, Clitoral hypertrophy, Hyperinsu... |
OMIM:262190 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... |
OMIM:619007 |
Waardenburg Syndrome, Type 2E |
|
Blue irides, Iris hypopigmentation, Hypopigmentation of the fundus, Hypopigmented skin patches, P... |
OMIM:611584 |
Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Anemia, Lymphopenia, Hyperpigmentation of the skin, Increased se... |
OMIM:604250 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612924 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Thrombocytop... |
ORPHA:275555 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Pigmentary retinopathy, Macular degeneration, Cystoid m... |
ORPHA:411527 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy |
OMIM:615725 |
Pseudohypoparathyroidism Type 1B |
|
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia, Conjunct... |
ORPHA:94089 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94090 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Renal insufficiency, Renal tubular dysfunction, Thrombocytopenia, Optic atrophy, Neutropenia |
ORPHA:289916 |
Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... |
ORPHA:79431 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Astigmatism, Hyperphosphatemia, Hypoplasia of penis, Corneal opacity, Hypocalcemia |
ORPHA:2323 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Congenital Rubella Syndrome |
|
Anemia, Abnormality of retinal pigmentation, Thrombocytopenia, Aplasia/Hypoplasia of the iris, Sp... |
ORPHA:290 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema |
OMIM:180104 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Anemia, Papilledema, Retinal calcification, Hypocalcemic seizures, Hyp... |
ORPHA:93325 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Progressive language deterioratio... |
ORPHA:168782 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Wolfram Syndrome 1 |
|
Hydronephrosis, Megaloblastic anemia, Neurogenic bladder, Hydroureter, Pigmentary retinopathy, Si... |
OMIM:222300 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Blue irides, Decreased testicular size, Self-mutilation, Micropenis, External genital hypoplasia,... |
ORPHA:3041 |
Idiopathic Aplastic Anemia |
|
Gingival bleeding, Anemia, Bone marrow hypocellularity, Neutropenia, Reticulocytopenia, Ecchymosi... |
ORPHA:88 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina |
OMIM:172870 |
Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Hyperpigmentation of the skin, Thrombocytopenia,... |
OMIM:619151 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Retinitis Pigmentosa 73 |
|
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... |
OMIM:616544 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific... |
OMIM:301000 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... |
ORPHA:999 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Blue irides, Cryptorchidism, Hypogonadism, Hyperphosphatemia, Optic atrophy, Melanocytic nevus |
OMIM:101800 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... |
ORPHA:894 |
Relapsing Fever |
|
Prolonged prothrombin time, Acute kidney injury, Leukocytosis, Leukopenia, Anemia, Thrombocytopen... |
ORPHA:91547 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
|
Blue irides, Cryptorchidism, Hypogonadism, Diabetes mellitus, Hyperphosphatemia, Red hair, Fair h... |
ORPHA:280651 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Intracranial hemorrhage, Ecchymosi... |
ORPHA:853 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Bruising susceptibility, Persistent bleeding after trauma, Congenital thrombocytopenia, Anemia of... |
OMIM:300367 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Retinal degeneration, Sideroblastic anemia, Thrombocytopenia, Thiamine-r... |
OMIM:249270 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:601718 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Thrombocytopenia, Renal hypoplasia/aplasia, Anemia |
ORPHA:2123 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:618220 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, Chorioretinal col... |
OMIM:601706 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Waardenburg Syndrome, Type 1 |
|
Blue irides, Hypopigmentation of the fundus, Synophrys, Premature graying of hair, Hypoplastic ir... |
OMIM:193500 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits, Hyperphosphatemia, Angioid streaks of the fundus, Calcin... |
OMIM:211900 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204100 |
Tufted Angioma |
|
Anemia, Purpura, Thrombocytopenia, Petechiae, Hypertrichosis |
ORPHA:1063 |
Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Deafness-Hypogonadism Syndrome |
|
Cognitive impairment, Hypergonadotropic hypogonadism, Congenital stationary night blindness, Abno... |
ORPHA:90646 |
Isovaleric Acidemia |
|
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Cerebellar hemorrhage, H... |
OMIM:243500 |
Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Chronic neutropenia, Curly hair, Short eyelashes, Concave ... |
OMIM:258360 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:603909 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... |
OMIM:618826 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Hypoplasia of the fovea, Astigmatism, Albinism, White hair, Hypopigmentation of hair... |
OMIM:203100 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Reticulated skin pigmentation, Nail dysplasia, Leukopenia, Aplastic anemia, Fine hair, Bone marro... |
OMIM:613990 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Premature graying of hair, Bone marrow hypocellularity, Thrombocytopenia, Nail dystrophy,... |
ORPHA:3322 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Spondylo-Ocular Syndrome |
|
Cataract, Iris hypopigmentation, Abnormal eyebrow morphology, Retinal detachment, Low posterior h... |
ORPHA:85194 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Anemia, Optic disc pallor, Thrombocytopenia, Petechiae, Optic atrophy, Splenomegaly |
OMIM:611490 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Nephropathy, Alopecia, Purpura, Gastrointestinal hemorrhage, Prolon... |
ORPHA:809 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Hyperthreoninuria, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204000 |
Pseudohypoparathyroidism Type 1C |
|
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypergonadotropic hypo... |
ORPHA:79444 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormal bleeding, Abnormality of retinal pigmentation |
ORPHA:1117 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... |
OMIM:618144 |
Noonan Syndrome 13 |
|
Blue irides, Head-banging, Multiple lentigines, Cryptorchidism, Anxiety, Low posterior hairline, ... |
OMIM:619087 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Cataract, Brushfield spots, Cryptorchidism, Clitoral hypertrophy, Pigme... |
OMIM:214110 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Reticulated skin pigmentation, Nail dysplasia, Leukopenia, Aplastic anemia, Premature graying of ... |
OMIM:613989 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:616108 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Nail ... |
OMIM:613987 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Low posterior hairline, Hirsutism, Generalized hirsutism |
ORPHA:1895 |
Piebaldism |
|
Piebaldism, Hypopigmented skin patches, Synophrys, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Hemolytic-uremic syndrome |
OMIM:614727 |
Mgat2-Cdg |
|
Long eyelashes, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic nipples, ... |
ORPHA:79329 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Reduced natural ki... |
OMIM:614172 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... |
OMIM:618697 |
Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabet... |
OMIM:618858 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Synophrys, Hy... |
ORPHA:3440 |
Classic Phenylketonuria |
|
Motor deterioration, Memory impairment, Self-injurious behavior, Mental deterioration, Hypopigmen... |
ORPHA:79254 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia |
OMIM:612783 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Acute myeloid leukemia |
OMIM:616435 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
Rhabdoid Tumor |
|
Renal neoplasm, Anemia, Thrombocytopenia, Hematuria, Internal hemorrhage |
ORPHA:69077 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Multiple cafe-au-lai... |
ORPHA:3214 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:610539 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hyperuricemia, Polycystic ovaries, Hyperinsulinemia, Hyperglycemia, Hypertrigl... |
OMIM:604367 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Renal insufficiency, Thrombocytopenia, Optic atrophy, Splenomegaly, Neutropenia |
ORPHA:79312 |
Leber Congenital Amaurosis 8 |
|
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... |
OMIM:613835 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Optic atrophy |
ORPHA:27 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperlipidemia, Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:256710 |
Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... |
ORPHA:398063 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Splenomegaly, Abnormality of skin pigmentation |
ORPHA:834 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Hermansky-Pudlak Syndrome |
|
Cataract, Iris hypopigmentation, Long eyelashes, Astigmatism, Hypopigmentation of the skin, Hypop... |
ORPHA:79430 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... |
ORPHA:1067 |
Atelis Syndrome 1 |
|
Irregular hyperpigmentation, Leukopenia, Anemia, Cafe-au-lait spot, Thrombocytopenia |
OMIM:620184 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, Cryptorchidism, Hypogonadism, Hypopigmented skin patches, Premature graying of hair,... |
OMIM:613266 |
Acute Promyelocytic Leukemia |
|
Gingival bleeding, Leukocytosis, Diffuse alveolar hemorrhage, Bruising susceptibility, Leukopenia... |
ORPHA:520 |
Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Hyperinsulinemia, Hypoplasia of penis, Abnormality of retin... |
ORPHA:791 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrichosis, Pigmentary retinopathy, Optic atrophy, Anemia |
ORPHA:255241 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology, Albinism |
ORPHA:2786 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Hyperinsulinemia, Hirsutism, Hyperinsulinemic hypoglycemia, Insulin-res... |
ORPHA:2298 |
Pseudohypoparathyroidism Type 1A |
|
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Band keratopathy, Hypergonadotropic ... |
ORPHA:79443 |
Proteus-Like Syndrome |
|
Cataract, Irregular hyperpigmentation, Polycystic ovaries, Abnormal pupil morphology, Retinal det... |
ORPHA:2969 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Jeune Syndrome |
|
Renal insufficiency, Nephropathy, Nephronophthisis, Abnormality of retinal pigmentation |
ORPHA:474 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Thrombocytopenia, Megaloblastic anemia, Retinal dystrophy |
ORPHA:49827 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Lupus nephritis, Thrombocytopenia, Nephritis |
OMIM:152700 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
Zellweger Syndrome |
|
Cataract, Brushfield spots, Cryptorchidism, Clitoral hypertrophy, Cognitive impairment, Posterior... |
ORPHA:912 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Monocytosis, Renal insufficiency... |
OMIM:619644 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair, Abnormality of retinal pigmentation |
ORPHA:1264 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabet... |
OMIM:606176 |
Babesiosis |
|
Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Hypoproteinemia, Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation |
ORPHA:1259 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level, Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia |
OMIM:616576 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:615085 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Decreased circulating antibody... |
OMIM:618116 |