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Gene: Tal1 MGI:98480

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

T cell acute lymphocytic leukemia 1

Synonyms:

bHLHa17, Scl, SCL/tal-1, Hpt

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tal1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tal1 (1 diseases)
Human diseases predicted to be associated with Tal1 (2042 diseases)

The table below shows human diseases associated to Tal1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukemia, Acute Lymphoblastic		Acute lymphoblastic leukemia	OMIM:613065

The table below shows human diseases predicted to be associated to Tal1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Abnormality of the nail, Sparse scalp hair	OMIM:146520
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ...	ORPHA:1818
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc...	ORPHA:1008
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ...	ORPHA:189
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi...	OMIM:613237
Aredyld	Generalized hypotrichosis	OMIM:207780
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension	OMIM:607832
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis	OMIM:604416
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal insufficiency, Renal atrophy, Renal interstitial fibrosis, ...	OMIM:620056
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Generalized hyperpigmentation	ORPHA:2297
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Reticulocytosis, Macrocytic ...	ORPHA:71275
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail	OMIM:302000
Hypertrichosis, Congenital Generalized, 2	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Trimethylaminuria	Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis, Cirrhosis	ORPHA:79278
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation	ORPHA:2222
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Ectodermal Dysplasia 5, Hair/Nail Type	Dystrophic fingernails, Absent toenail, Sparse scalp hair	OMIM:614927
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation,...	ORPHA:79133
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy...	OMIM:131960
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatomegaly, Pancreatitis, Hepatic steatosis	OMIM:618805
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Lessel-Kubisch Syndrome	Renal hypoplasia, Sparse pubic hair, Premature graying of hair, Renal insufficiency, Hypertension	OMIM:618681
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Atrichia, Abnormal sebaceous gland morphology, Absent hair, Nail...	OMIM:614931
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis	OMIM:619013
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E...	OMIM:617021
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Hypotension, Tubular basement membrane disi...	OMIM:174000
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Nephronophthisis	Anemia, Renal insufficiency, Abnormality of retinal pigmentation	ORPHA:655
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Neutropenia,...	OMIM:617056
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri...	OMIM:301310
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Claw hand deformity, Distal l...	OMIM:614455
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Acatalasemia	Microcytic anemia	ORPHA:926
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria	ORPHA:2613
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Preeclampsia/Eclampsia 1	Proteinuria, Hypertension, Thrombocytopenia	OMIM:189800
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm...	ORPHA:79402
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Coarse hair, Fine hair, Lymphopenia, Pancytopenia, Stage 5 ch...	OMIM:242900
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair, Cafe-au-lait spot	OMIM:618625
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Sparse body hair, Abnormal fingernail morphology, Abnormal toenail morpholo...	ORPHA:1809
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Mucopolysaccharidosis-Plus Syndrome	Low posterior hairline, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Rena...	OMIM:617303
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Vascular Malformation, Primary Intraosseous	Hypochromic anemia, Umbilical hernia	OMIM:606893
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Refractory Celiac Disease	Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr...	ORPHA:398063
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ...	ORPHA:567544
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Supravalv...	ORPHA:439232
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lymphopenia, Stage 5 ch...	OMIM:617575
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Micros...	OMIM:161900
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr...	OMIM:618349
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Distal amyotrophy, Central heterochromia, Long eyelashes, Long ...	OMIM:275400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia	OMIM:300752
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:616730
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Kondoh Syndrome	Sparse hair, Thick eyebrow, Widow's peak	OMIM:606242
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,...	ORPHA:1433
Porphyria Cutanea Tarda	Alopecia, Facial hypertrichosis, Porphyrinuria, Onycholysis, Hyperpigmentation in sun-exposed areas	OMIM:176100
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Intrauterine growth retardation, Microvesicular hepatic steatosis	OMIM:610198
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney...	OMIM:619487
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, Flexion contractur...	OMIM:616733
Alopecia Totalis	Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails	ORPHA:700
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy	ORPHA:46487
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Trichothiodystrophy 9, Nonphotosensitive	Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy	OMIM:619692
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity	OMIM:620425
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Klippel-Trénaunay Syndrome	Microcytic anemia, Hepatomegaly, Ascites	ORPHA:90308
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn...	OMIM:105200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Fine hair, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias...	OMIM:619428
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Intrauterine growth retardation, Macroc...	OMIM:620501
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Neutropenia, Focal segmental glomeru...	ORPHA:1830
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Pancytopenia, Ragged-red muscle ...	OMIM:607426
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Fabry Disease	Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,...	OMIM:301500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Moynahan Syndrome	Alopecia, Sparse hair	ORPHA:2574
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Sp...	ORPHA:1660
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair	ORPHA:1573
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Nephrosialidosis	Nephropathy, Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Bone-marrow foam cells	OMIM:256150
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Systemic Lupus Erythematosus 17	Hypertensive crisis, Alopecia, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon,...	OMIM:301080
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Infantile Liver Failure Syndrome 1	Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia	OMIM:615438
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru...	ORPHA:84090
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Increased urine ...	OMIM:619048
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair, Congestive heart failure, Splenomegaly, Cardiomegaly, Va...	OMIM:269920
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Fetal Parvovirus Syndrome	Anemia, Intrauterine growth retardation, Ascites, Thrombocytopenia	ORPHA:295
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Abnormal mitral valve morphology, Proteinuria, Anemia, Nephrotic syndrome, Hypertension	ORPHA:1192
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation	ORPHA:499
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert...	OMIM:540000
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Nail dystrophy, Narrow ...	OMIM:224750
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Hepatomeg...	OMIM:121300
L-Ferritin Deficiency	Alopecia	OMIM:615604
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo...	ORPHA:567548
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Normocytic anemia, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis ...	ORPHA:247691
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia	ORPHA:2134
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai...	OMIM:613102
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Pseudo-Torch Syndrome 3	Acute kidney injury, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocytopenia, Cerebr...	OMIM:618886
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Paget Disease Of Bone 6	Nephrocalcinosis, Left ventricular hypertrophy	OMIM:616833
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:1006
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality of retinal ...	ORPHA:3156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P...	OMIM:612925
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Von Willebrand Disease	Microcytic anemia, Thrombocytopenia	ORPHA:903
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Skeletal muscle hypertrop...	OMIM:300280
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Pigmentary retinopathy, Left ventricular systolic dysfunction, Left ventricul...	OMIM:613156
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Micropenis, Sparse hair	ORPHA:3363
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia	OMIM:613561
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Pigmentary retinopathy, Distal amyotrophy, Skeletal muscle ...	ORPHA:3208
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal lymphocyte morphology...	ORPHA:2584
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, ...	ORPHA:49827
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis...	OMIM:259720
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ...	ORPHA:79153
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Congenital Heart Block	Intrauterine growth retardation, Oligohydramnios, Pleural effusion, Peripheral edema, Pallor, End...	ORPHA:60041
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Distichiasis, Abnormal...	ORPHA:1807
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Hepatomegaly, Neutropenia	OMIM:251900
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Hyperpigmentation of the skin, Pili torti, Sparse hair, Tricho...	OMIM:301845
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region	ORPHA:79411
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo...	OMIM:256300
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit...	OMIM:602400
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation	OMIM:225050
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash...	OMIM:129500
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar...	OMIM:604536
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612926
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Abnormality of retinal pigmentation, Uncombable hair	ORPHA:1264
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612924
Potocki-Shaffer Syndrome	Micropenis, Anemia, Hypertension, Nephroblastoma	ORPHA:52022
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy...	OMIM:615355
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Moderate intrauterine growth retardation	ORPHA:293967
Babesiosis	Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepato...	ORPHA:108
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor...	ORPHA:140936
Fibrodysplasia Ossificans Progressiva	Anemia, Alopecia	ORPHA:337
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid...	OMIM:619603
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo...	ORPHA:79303
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growth retardation, P...	OMIM:266200
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Ethanolaminosis	Cardiomegaly	OMIM:227150
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:276621
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise...	OMIM:615382
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic...	ORPHA:275555
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Renal insufficiency, Splenomegaly, Leuk...	OMIM:603903
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Porphyria Variegata	Chronic kidney disease, Proximal muscle weakness in upper limbs, Hypopigmentation of the skin, Hy...	ORPHA:79473
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Intrauterine growth retardation, Hypochromic microcytic anemia, M...	ORPHA:66634
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria	OMIM:618347
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Hypochromic microcytic anemia	OMIM:619147
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Abnormality of the subungual ...	ORPHA:335
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H...	ORPHA:218
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Tangier Disease	Distal amyotrophy, Facial diplegia, Nail dystrophy, Splenomegaly, Nail dysplasia, Left ventricula...	OMIM:205400
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Megabladder, Congenital	Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis...	OMIM:618719
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t...	OMIM:615862
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy	OMIM:614458
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Omenn Syndrome	Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,...	ORPHA:39041
Complement Factor H Deficiency	Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel...	OMIM:609814
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Eem Syndrome	Absent eyebrow, Abnormality of retinal pigmentation, Sparse scalp hair, Sparse body hair	ORPHA:1897
Anti-Glomerular Basement Membrane Disease	Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia	ORPHA:375
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Alopecia, Renal ...	OMIM:137940
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist...	ORPHA:1209
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation...	ORPHA:499009
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Hematuria, Proteinuria, Hypertension, Coombs-p...	OMIM:614034
Pediatric Systemic Lupus Erythematosus	Nephritis, Alopecia, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lympho...	ORPHA:93552
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Renal insufficiency	ORPHA:28
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Decreased FOXP3-expressing T cell count, Eosinophilia, Glomerulonephritis, Neutropenia,...	OMIM:304790
Melas	Nephropathy, Focal segmental glomerulosclerosis, Pigmentary retinopathy, Proximal tubulopathy, Di...	ORPHA:550
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia	ORPHA:2575
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concen...	ORPHA:320
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Gastrointestinal hemorrhage, Aplastic anemia, Fine hair, Premature graying of hair, Pan...	OMIM:613990
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Myop...	OMIM:300653
Hypotrichosis 3	Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca...	OMIM:613981
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Neoplasm of the pancreas	ORPHA:2959
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Alopecia Universalis	Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Hypertension, ...	ORPHA:701
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail...	ORPHA:1882
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A...	ORPHA:158684
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Liddle Syndrome	Nephropathy, Cerebral ischemia, Renal insufficiency, Arrhythmia, Hypertension	ORPHA:526
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Abnormal heart morphology, Nail dystrophy, Spotty hypopigmentation, Hyperpigm...	ORPHA:1867
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:2123
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio...	ORPHA:324
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Nephrolith...	OMIM:615474
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, A...	ORPHA:79312
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Leukocytosis, Cerebral ischemia, ST segment...	ORPHA:90065
Erythrokeratodermia Variabilis	Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism, Hypermela...	ORPHA:317
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Spontaneous, recurrent epistaxis, P...	ORPHA:182050
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:29072
Mucopolysaccharidosis, Type Iiib	Coarse hair, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomeg...	OMIM:252920
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis, Enlarged kidney	ORPHA:168569
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Alagille Syndrome 2	Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ...	OMIM:610205
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal...	ORPHA:93126
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy...	ORPHA:85447
Rhabdoid Tumor	Renal neoplasm, Hematuria, Internal hemorrhage, Thrombocytopenia, Anemia, Hypertension	ORPHA:69077
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor, Reticulocytosis, Short stature, Decreased mean corpuscular volume, He...	OMIM:611590
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Cantu Syndrome	Congenital hypertrophy of left ventricle, Long eyelashes, Curly eyelashes, Cardiomegaly, Bicuspid...	OMIM:239850
Leukocyte Adhesion Deficiency Type Ii	Umbilical hernia, Microcytic anemia, Intrauterine growth retardation, Leukocytosis, Hepatomegaly,...	ORPHA:99843
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
X-Linked Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:181
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Nail dystrophy, Urethral stri...	OMIM:226670
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hypertroph...	OMIM:276700
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Hemochromatosis, Type 1	Alopecia, Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, A...	OMIM:235200
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Renal insufficiency, Monocytosis, Hep...	OMIM:619644
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Tricuspid regurgitation, Left ventricular noncompaction, Left ...	OMIM:619167
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Anemia, Renal insufficiency, Glomerulopathy	ORPHA:2668
Leishmaniasis	Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage morphology, Throm...	ORPHA:507
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Mild intrauterine growth retardation	OMIM:616943
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag...	OMIM:166300
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Transient ischemic attack, Hypertension	OMIM:616779
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Intrauterine growth retardation, Pancytopenia, Abnormality of ...	ORPHA:2169
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Hypertension	ORPHA:2111
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Hypercalciuria, Prolonged QT interval, Intracranial hemo...	ORPHA:251274
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hepatosplenomegaly, Hirsutism, Cardiomegaly, Left ventricula...	ORPHA:79330
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu...	ORPHA:567546
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d...	OMIM:194080
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Barth Syndrome	Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia	OMIM:302060
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Lesch-Nyhan Syndrome	Hematuria, Anemia, Renal insufficiency	ORPHA:510
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog...	OMIM:194300
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Abnormal heart morphology, Alopecia, Hypopigmentation of hair	ORPHA:1067
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syn...	OMIM:617713
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Camptodactyly...	OMIM:611209
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Vici Syndrome	Dilated cardiomyopathy, Hypopigmentation of the skin, Cardiomyopathy, Congestive heart failure, O...	OMIM:242840
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce...	ORPHA:3287
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom...	ORPHA:2260
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy	ORPHA:3222
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Hypotension, Renal amyloidosis, Abnorma...	ORPHA:85445
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Cardiomyopathy	ORPHA:254857
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia, Alopecia, Coarse hair, Nail dystrophy, Ventricular septal defect, Atrial septal...	ORPHA:75389
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy, Low anterior hairline	OMIM:613153
Hermansky-Pudlak Syndrome 1	Hematochezia, Epistaxis, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocyt...	OMIM:203300
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Renal insufficiency, Partial atrioventricular canal def...	OMIM:615996
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Spider hemangioma, Cyclic neutropenia, Decreased glomerular f...	OMIM:232240
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Atrial fibri...	OMIM:620734
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop...	ORPHA:859
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Impaired ...	OMIM:608203
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair	ORPHA:59303
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen...	OMIM:275350
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria	OMIM:301108
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Absent facial hair, Sparse facial hair	ORPHA:2183
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Evans Syndrome	Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:1959
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Budd-Chi...	OMIM:127550
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Skeletal muscle atrophy, Abnormal lymphocyte morphology, S...	ORPHA:3162
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Galloway-Mowat Syndrome 3	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, C...	OMIM:617729
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Hypopigmented skin patches, Congestive heart failure, Hypertrophic cardiomyopathy, Ab...	ORPHA:183
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Aceruloplasminemia	Abnormal pancreas morphology, Refractory anemia, Elevated hepatic iron concentration, Hypochromic...	ORPHA:48818
Alopecia-Intellectual Disability Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:2850
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse axillary hair, Sparse pubic hair	OMIM:146110
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus...	OMIM:126320
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Nail dysplasia, Joint contra...	OMIM:615704
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair	OMIM:608615
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Gand Syndrome	Sparse hair	OMIM:615074
Naxos Disease	Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Subungual hyperkerat...	OMIM:601214
Senior-Loken Syndrome 8	Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn...	OMIM:616307
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy...	OMIM:618061
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Hyperco...	OMIM:613870
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased muscle mass, Decreased glomerular filtration rate, ...	OMIM:232200
Orthostatic Hypotension 2	Anemia	OMIM:618182
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia	OMIM:614654
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Hy...	OMIM:173900
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule	OMIM:618373
Denys-Drash Syndrome	Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension	ORPHA:220
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology	OMIM:223900
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Situs in...	OMIM:613095
Sneddon Syndrome	Nephropathy, Intracranial hemorrhage, Hypertension	ORPHA:820
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Joint contracture of the hand, Hypertrichosis, Splenomega...	OMIM:263700
Al Amyloidosis	Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Arrhythmi...	ORPHA:85443
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Pallor, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Ane...	ORPHA:300298
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Immunodeficiency 7	Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Neutrope...	OMIM:615387
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Brittle hair, Coarse hair	ORPHA:1883
Simple Cryoglobulinemia	Nephritis, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morp...	ORPHA:91139
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair	OMIM:616819
Noonan Syndrome 10	Sparse eyebrow, Hypertrophic cardiomyopathy, Mitral stenosis, Mitral regurgitation, Mitral valve ...	OMIM:616564
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Hyperpigmentation of the skin, Brittle hair	ORPHA:50812
Johanson-Blizzard Syndrome	Alopecia, Hydronephrosis, Abnormal hair pattern, Dextrocardia, Abnormal cardiac septum morphology...	ORPHA:2315
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, ...	OMIM:616239
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Thromb...	ORPHA:101028
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease...	ORPHA:169154
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Spastic Paraplegia 23, Autosomal Recessive	Multiple lentigines, Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body ...	OMIM:270750
Relapsing Fever	Epistaxis, Acute kidney injury, Hypotension, Abnormality of the urinary system, Leukopenia, Leuko...	ORPHA:91547
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Umbilical hernia, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia	OMIM:301040
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl...	OMIM:619468
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis...	ORPHA:57
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Left v...	OMIM:619698
Oslam Syndrome	Anemia	OMIM:165660
Diamond-Blackfan Anemia 7	Macrocytic anemia, Intrauterine growth retardation, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Systemic Capillary Leak Syndrome	Hypotension, Oliguria, Renal insufficiency, Leukocytosis, Arrhythmia, Abnormal renal tubule morph...	ORPHA:188
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Sparse hair	ORPHA:1839
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Reticulocytosis, Myopathy, Rhabdomyolysis, Myoglobinuria, Hemolytic anemia, ...	ORPHA:713
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Fetal Cytomegalovirus Syndrome	Hepatitis, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia,...	ORPHA:294
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Small nail, Horseshoe kidney, Ventricular septal defect, Absent eyelashes, Renal cyst, ...	ORPHA:166035
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal hair morphology, Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glo...	ORPHA:86818
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increa...	OMIM:256550
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Alopecia, Hypospadias	OMIM:618840
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Camptodactyly of finger, Nail dysplasia	OMIM:212360
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Localized Junctional Epidermolysis Bullosa	Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary...	ORPHA:251393
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction	OMIM:608320
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Sparse eyebrow, Fine hair, Decreased glomerular filtration ra...	OMIM:614748
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Nail dystrophy...	OMIM:609057
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Sparse eyebrow, Tricuspid regurgitation, Nail dystrophy, Mitr...	OMIM:619127
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR int...	ORPHA:308552
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Gastrointestinal hemorrhage, Leukopenia, Splenomegaly, Myositis, Hepatomeg...	ORPHA:809
Amyloidosis, Finnish Type	Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Decreased hear...	OMIM:105120
Corticosteroid-Binding Globulin Deficiency	Anemia, Hypotension, Decreased urinary potassium, Hypertension	OMIM:611489
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Pulmonary ...	OMIM:613845
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, ...	ORPHA:88630
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Corneal ne...	OMIM:158310
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension	OMIM:182410
Menkes Disease	Sparse hair, Alopecia, Hypopigmentation of the skin, Brittle hair	OMIM:309400
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Trichothiodystrophy 4, Nonphotosensitive	Sparse hair, Small nail, Trichorrhexis nodosa, Nail dystrophy, Concave nail, Sparse eyelashes, Na...	OMIM:234050
Cyclic Vomiting Syndrome	Cardiomyopathy, Growth delay, Pallor	OMIM:500007
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Long eyelashes, Renal i...	OMIM:617595
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Blepharocheilodontic Syndrome 1	High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair	OMIM:119580
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph...	ORPHA:568051
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Colchicine Poisoning	Alopecia, Oliguria, Hypotension, Cardiogenic shock, Congestive heart failure, Renal insufficiency...	ORPHA:31824
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, ...	OMIM:235400
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros...	OMIM:618913
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t...	ORPHA:90291
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy	OMIM:242300
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:858
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Weiss-Kruszka Syndrome	Highly arched eyebrow, Hypoplastic fingernail, Dextrotransposition of the great arteries, Ventric...	OMIM:618619
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, Congestive h...	OMIM:619355
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair...	OMIM:615280
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Muscle fiber atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Incre...	ORPHA:228302
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Thrombocytopenia, Cholelithiasis, Normochromic anemia	OMIM:618775
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Mitral valve prolapse, Hypertrichosis	OMIM:247410
Trichohepatoenteric Syndrome 2	Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair	OMIM:614602
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Megaloblastic anemia, Neutropenia	OMIM:250940
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Noonan Syndrome 6	Multiple lentigines, Low posterior hairline, Curly hair, Long eyebrows, Sparse hair, Cafe-au-lait...	OMIM:613224
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ...	ORPHA:169186
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Dry hair, Fine hair, White hair...	ORPHA:576
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency	ORPHA:890
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Gitelman Syndrome	Rhabdomyolysis, Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Pro...	ORPHA:358
Congenital Disorder Of Glycosylation, Type Iiw	Increased hepatic echogenicity, Microcytic anemia, Hepatic steatosis, Splenomegaly, Prolonged neo...	OMIM:619525
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia	OMIM:607906
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Joint contracture of the hand, Hypopigmentation of the skin, ...	OMIM:251300
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Budd-Chiari syndrome, Large vessel vasculitis, Unilateral...	ORPHA:49041
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair	OMIM:619691
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Hypomelanosis Of Ito	Alopecia, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon, Thrombocytopenia	ORPHA:401945
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,...	ORPHA:340
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Abnormality of the kidney, Nephro...	ORPHA:79327
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Long eyelashes, Thick eyebr...	OMIM:620504
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo...	ORPHA:2970
Bresek Syndrome	Renal hypoplasia, Alopecia, Hypoplasia of the bladder, Vesicoureteral reflux, Renal dysplasia	ORPHA:85284
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Retinitis Pigmentosa 59	Micropenis, Hepatomegaly, Renal insufficiency	OMIM:613861
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Reduced renal corticomedullary differentiation, Splenomegaly, Hepat...	OMIM:618541
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Absent nipple, Brittle hair, Absent hair	OMIM:614940
Non-Acquired Isolated Growth Hormone Deficiency	Sparse hair	ORPHA:631
Optic Atrophy 1	Pallor	OMIM:165500
Renpenning Syndrome	Alopecia, Abnormal hairshaft morphology, Skeletal muscle atrophy, Thin eyebrow, Hypospadias	ORPHA:3242
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Ventricular septal defect, Hydronephrosis, Subvalvular aortic...	OMIM:613001
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Hypocomplementemic Urticarial Vasculitis	Irregular hyperpigmentation, Abnormal heart valve morphology, Renal insufficiency, Splenomegaly, ...	ORPHA:36412
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Pheochromocytoma--Islet Cell Tumor Syndrome	Axillary freckling, Elevated urinary norepinephrine level, Congestive heart failure, Positive reg...	OMIM:171420
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair	OMIM:619208
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Alopecia, Hydroureter, Sparse eyelashes	OMIM:616367
Kury-Isidor Syndrome	Hydronephrosis, Alopecia, Ventricular septal defect, Hypertrichosis	OMIM:619762
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Abnormal heart valve morphology, Thick eyebrow, Mi...	ORPHA:230851
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo...	OMIM:614941
Progeroid Syndrome, Petty Type	Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,...	ORPHA:2963
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Hemolytic anemia, Pericarditis	OMIM:152700
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia	ORPHA:89937
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome...	ORPHA:447
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le...	ORPHA:185
Omenn Syndrome	Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocyto...	OMIM:603554
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Alopecia, Hypotension, Irregular hyperpigmentation, Congestive heart failure, A...	ORPHA:428
Filippi Syndrome	Frontal hirsutism, Sparse hair, Hypertrichosis	OMIM:272440
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital hyperpigmentation, Sparse hair, Sparse eyebrow, Sparse eyelashes	OMIM:224900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal hemorrhage, Hematuria, Renal cyst, Raynaud phenomenon, Supraventricu...	OMIM:611773
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous ...	ORPHA:47
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Premature graying of hair, Ischemic stroke, Cerebral hemorrhage, Hyperten...	ORPHA:280679
Adrenoleukodystrophy	Alopecia, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Hyperpigmentation of...	OMIM:300100
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Flexion contracture	OMIM:203550
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Alopecia, Nail dystrophy, Nail dysplasia, Hyperpigmentation of the skin, Anemia	OMIM:175500
Androgen Insensitivity Syndrome	Sparse axillary hair, Sparse pubic hair, Absent facial hair	OMIM:300068
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Renal insufficiency, Hypertrophic cardiomyopathy, Lacticaciduria	OMIM:619386
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Thrombocytopenia	ORPHA:79242
Stiff-Person Syndrome	Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Vitiligo, Anemia, Tachycardia, ...	OMIM:184850
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Dyskeratosis Congenita	Alopecia, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal fingernail ...	ORPHA:1775
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Limb joint contracture, Alopecia, Skeletal muscle atrophy, Melanocytic nevus	OMIM:612079
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Irregular hyperpigmentation, El...	ORPHA:56
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Polyhydramnios, Ventricular sept...	ORPHA:3405
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair	ORPHA:3051
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Acquired Generalized Lipodystrophy	Cardiomyopathy, Abnormal cardiovascular system physiology, Generalized hyperpigmentation, Myopath...	ORPHA:79086
Ifap Syndrome 2	Atrichia, Sparse hair, Nail dystrophy	OMIM:619016
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman...	OMIM:256700
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop...	OMIM:610377
Bardet-Biedl Syndrome 1	Hirsutism, Left ventricular hypertrophy, Bone spicule pigmentation of the retina, Abnormality of ...	OMIM:209900
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ...	OMIM:609053
Snakebite Envenomation	Epistaxis, Hypotension, Acute kidney injury, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis...	ORPHA:449285
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Lymphedema, Pallor, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutro...	ORPHA:3226
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia...	OMIM:613751
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency, Abnormality of retinal pigmentation	ORPHA:474
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Mitral valve prolapse, Generalized hirsutism, Anonychia	ORPHA:1563
Morbid Obesity And Spermatogenic Failure	Hypertension, Myocardial infarction, Congestive heart failure	OMIM:615703
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis	OMIM:618282
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses...	OMIM:120330
American Trypanosomiasis	Cardiomyopathy, Pallor, Splenomegaly, Myocarditis, Periorbital edema, Edema	ORPHA:3386
Leigh Syndrome	Generalized aminoaciduria, Alopecia, Skeletal muscle atrophy, Methylmalonic aciduria, Hypertricho...	ORPHA:506
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia, Whi...	OMIM:613989
Ogden Syndrome	Torsade de pointes, Ventricular septal defect, Premature ventricular contraction, Arrhythmia, Bic...	OMIM:300855
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Hypertrophic cardiomyopathy...	ORPHA:368
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,...	OMIM:300953
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Hematuria, Proteinuri...	ORPHA:91138
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized hirsutism, Hepatomegaly, Hypertension, Myopathy	ORPHA:363400
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Pigmentary retinopathy, Methylmalo...	OMIM:277400
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Card...	ORPHA:79430
Adams-Oliver Syndrome	Alopecia, Gastrointestinal hemorrhage, Hypoplastic fingernail, Tetralogy of Fallot, Leukopenia, P...	ORPHA:974
Hydatidiform Mole	Anemia	ORPHA:99927
Systemic Lupus Erythematosus	Alopecia, Leukopenia, Hematuria, Proteinuria, Hypertension, Lupus nephritis, Raynaud phenomenon, ...	ORPHA:536
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ...	OMIM:162000
Cranioectodermal Dysplasia 2	Sparse eyebrow, Polysplenia, Renal insufficiency, Splenomegaly, Patent foramen ovale, Sparse eyel...	OMIM:613610
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:94080
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormality of the u...	ORPHA:3253
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Nephrocalcinosis, Pigmentary retinopathy, Vitiligo, Nail dystroph...	OMIM:240300
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Premature graying of hair, ...	ORPHA:363618
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Johnson Neuroectodermal Syndrome	Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Absent eyebrow, Sparse hair	ORPHA:2316
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia	OMIM:615750
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Renal insufficiency	ORPHA:281090
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Hurler Syndrome	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Thick eyebrow, Endocard...	ORPHA:93473
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Intermi...	ORPHA:97283
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Anemia, Hypertension, Myocardial infarction	OMIM:208060
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia	OMIM:246400
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:614594
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Facial diplegia, Nail dystrophy, Left ventricular h...	ORPHA:31150
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Generalized hirsut...	ORPHA:79083
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Long eyelashes, Leukopenia, Proteinuria, Anemia, Neutropenia...	OMIM:301110
Spondyloenchondrodysplasia	Chronic kidney disease, Vasculitis, Granuloma, Pancytopenia, Vitiligo, Autoimmune hemolytic anemi...	ORPHA:1855
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Overlap Myositis	Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Abnormal heart morp...	ORPHA:206572
Legionnaires Disease	Hypotension, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Arrhythmia, ...	ORPHA:549
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Hy...	OMIM:619148
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Hypopigmentation of the skin, Skeletal muscle atrophy, Lower limb muscle weak...	OMIM:615980
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ...	OMIM:617941
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Fine hair, Sparse hair, Abnormality of skin pigmentation	ORPHA:1806
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Long eyelashes, Cardiomegaly, Pulmonary arterial hypertension, Hepatomegaly, Synophrys	OMIM:619064
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Sparse hair, Small nail	OMIM:273400
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower ...	ORPHA:746
Glycogen Storage Disease X	Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy	OMIM:261670
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Rig...	OMIM:115197
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Muckle-Wells Syndrome	Renal amyloidosis, Renal insufficiency, Leukocytosis	OMIM:191900
Caudal Regression Syndrome	Renal agenesis, Decreased muscle mass, Abnormality of the ureter, Renal insufficiency, Vesicouret...	ORPHA:3027
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Refractory s...	OMIM:557000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Nephrolithiasis, Ventri...	ORPHA:369929
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Bleeding Disorder, Platelet-Type, 21	Alopecia, Thrombocytopenia, Increased mean platelet volume	OMIM:617443
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Rheumatic Fever	Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit...	ORPHA:3099
Refsum Disease	Skeletal muscle atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Abnormality of retina...	ORPHA:773
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Pancyt...	OMIM:227650
Acute Adrenal Insufficiency	Normocytic anemia, Hypotension, Vitiligo, Renal insufficiency, Sparse axillary hair, Decreased ur...	ORPHA:95409
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Free Sialic Acid Storage Disease	Iris hypopigmentation, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall muscul...	ORPHA:834
Dyskeratosis Congenita, X-Linked	Alopecia, Premature graying of hair, Horseshoe kidney, Pterygium of nails, Ridged nail, Pancytope...	OMIM:305000
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Adult Syndrome	Alopecia, Absent nipple, Toenail dysplasia, Fine hair, Breast hypoplasia, Melanocytic nevus, Fing...	ORPHA:978
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Facial telangiectasia, Nail dystroph...	OMIM:614564
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Acquired Von Willebrand Syndrome	Normocytic anemia, Hypochromic anemia, Refractory anemia	ORPHA:99147
Nephronophthisis 19	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Splenomegaly, Renal int...	OMIM:616217
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Nail dystrophy, Autoimmune hemolytic anemia, Splenomegaly, Myositis, Iron deficiency an...	ORPHA:37042
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Narcolepsy Type 1	Syncope, Hypertension, Nocturia	ORPHA:2073
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Onycholysis, Hypopigmented skin patches	ORPHA:525
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, End...	OMIM:212140
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of...	ORPHA:101096
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly	OMIM:256040
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Low anterior hairline, Proteinuria...	ORPHA:261222
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertr...	OMIM:605676
Bathing Suit Ichthyosis	Alopecia, Sparse hair, Nail dystrophy	ORPHA:100976
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Mottled pigmentation, Stage 5 chronic kidney disease, Brittle hair, Flexion contracture...	OMIM:608612
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Alopecia, Aplasia/Hypoplasia of the spleen, Leukop...	ORPHA:227990
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a...	ORPHA:411536
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Infection associated neutropenia, Cardiomyopathy, Renal insufficiency, 3-Methyl...	ORPHA:445038
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Holocarboxylase Synthetase Deficiency	Alopecia, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric a...	OMIM:253270
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intrauterine growth retardation, Megaloblastic anemia, Neutropenia, Reduced number of intrahepati...	ORPHA:79284
Tarp Syndrome	Intrauterine growth retardation, Extramedullary hematopoiesis	ORPHA:2886
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Alopecia, Long penis, Hirsutism, Hyperpigmentatio...	ORPHA:90795
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Familial Cervical Artery Dissection	Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart	OMIM:617661
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P...	OMIM:601675
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ...	ORPHA:1457
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia, Abnorma...	OMIM:266500
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse...	ORPHA:1787
Porphyria, Acute Intermittent	Urinary retention, Hypertension, Reduced erythrocyte porphobilinogen deaminase activity, Urinary ...	OMIM:176000
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Proximal muscle weakness in upper limbs, Lower limb muscle weaknes...	ORPHA:99845
Lamellar Ichthyosis	Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Congenital alopecia totalis, Absent hair, Cardiomyopathy, Absent toenail, Abse...	ORPHA:158687
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left...	ORPHA:254892
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute...	OMIM:260400
Boutonneuse Fever	Vasculitis, Leukopenia, Renal insufficiency, Thrombocytopenia	ORPHA:83313
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Intrauterine growth retardation, Macrocytic anemia,...	OMIM:268130
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Flexion contracture	OMIM:215100
Lead Poisoning	Chronic kidney disease, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Abnormal T ce...	ORPHA:330015
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Even-Plus Syndrome	Highly arched eyebrow, Sparse hair, Synophrys	OMIM:616854
Stiff Skin Syndrome	Hypertension, Nephrolithiasis	ORPHA:2833
Inflammatory Skin And Bowel Disease, Neonatal, 2	Long eyelashes, Hypertension	OMIM:616069
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology	ORPHA:1515
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato...	ORPHA:228308
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Hepatosplenomegaly, D...	OMIM:606367
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus	ORPHA:2377
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Portal hypertension, Splenomegaly, Sparse eyelashes, Thick hair, Hepato...	OMIM:607626
Proteus Syndrome	Venous malformation, Splenomegaly	OMIM:176920
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Thick eyebrow, Synophrys	OMIM:611091
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb...	ORPHA:136
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Growth delay, Persistence...	ORPHA:124
Schimmelpenning-Feuerstein-Mims Syndrome	Horseshoe kidney, Alopecia, Hypopigmentation of the skin, Hyperphosphaturia	OMIM:163200
Prolidase Deficiency	Facial hirsutism, Splenomegaly, Low posterior hairline, Diffuse telangiectasia, Hepatomegaly, Thr...	OMIM:170100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly...	OMIM:614376
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Urinary incontinence, Transient ischemic attack, Alopecia, Lacunar stroke	OMIM:600142
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Sinus tachycardia, Spotty hyperpigmentation, Nail dystrophy, Mitral reg...	OMIM:614008
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a...	OMIM:214500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Thick eyebrow, Congenital diaphragmatic hernia, Mitral valve prolapse,...	OMIM:245600
Wolcott-Rallison Syndrome	Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Lymphocytosis, Iron deficie...	ORPHA:1667
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Highly arched eyebrow, Aortic regurgitation, Tetralogy of Fallot, Vesicour...	ORPHA:96147
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Hypertrichosis, Congestive heart failure, Abn...	ORPHA:363705
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Scrub Typhus	Myocarditis, Hypotension, Renal insufficiency, Splenomegaly	ORPHA:83317
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Sparse axillary hair, Sparse facial hair	OMIM:608154
Werner Syndrome	Abnormal hair whorl, Skeletal muscle atrophy, Premature graying of hair, Congestive heart failure...	ORPHA:902
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin ...	ORPHA:464
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Giant Cell Arteritis	Vasculitis, Alopecia, Epistaxis, Double outlet right ventricle with subpulmonary ventricular sept...	ORPHA:397
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ...	OMIM:612843
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Myopathy, Renal cy...	OMIM:614922
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Nephronophthisis 11	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hypertension	ORPHA:79084
Polyarteritis Nodosa	Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pericarditis	ORPHA:767
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Pancyt...	OMIM:600901
Joubert Syndrome 14	Highly arched eyebrow, Ventricular septal defect, Renal cyst, Intracranial hemorrhage, Hypertension	OMIM:614424
Mulibrey Nanism	Pigmentary retinopathy, Congestive heart failure, Nephroblastoma, Cardiomegaly, Pericardial const...	OMIM:253250
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Sparse hair	OMIM:268020
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Riboflavin Transporter Deficiency	Iris hypopigmentation, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, Hypertension	ORPHA:97229
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature graying of hair, Abnormal left ventricle morphology, Cerebral h...	OMIM:300845
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Xanthinuria, Type Ii	Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis	OMIM:603592
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Increased urinary cortisol level, Nephrolithiasis, Hirsutism, Proximal amyotrophy, Rena...	ORPHA:189427
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair, Hypertension	OMIM:617763
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Camptodactyly of finger, Fragile nails	OMIM:226650
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Sparse pubic hair, Renal hypoplasia, Fine hair, Congestive heart failu...	OMIM:181270
Dyskeratosis Congenita, Digenic	Alopecia, Nail dystrophy, Sparse eyelashes, Abnormality of skin pigmentation, Anemia	OMIM:620040
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Hypospadias, Supernumerary nipple	ORPHA:3224
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Pigmentary retinopathy, Multiple small medu...	OMIM:118450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Renal dysplasia, Elbow flexion contracture, Renal insufficiency, Increase...	OMIM:608836
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:612933
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis, Reduced left ventricular ejection fraction, Abnormal s...	ORPHA:314652
Monosomy 18P	Low posterior hairline, Alopecia, Hypertension	ORPHA:1598
Alstrom Syndrome	Nephritis, Alopecia, Dilated cardiomyopathy, Pigmentary retinopathy, Congestive heart failure, Re...	OMIM:203800
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Keutel Syndrome	Alopecia, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis	ORPHA:33111
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Nephronophthisis, Stage 5 chronic kidney disease, ...	OMIM:608629
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur...	ORPHA:79233
Congenital Heart Defects, Multiple Types, 3	Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor...	OMIM:614954
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Oligosacchariduria, Lower limb muscle weakness, Hypertrophic cardiomyop...	ORPHA:365
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Pancytopenia, Renal insufficiency, Telangiectasia of the skin, Hypoplasia of pe...	ORPHA:85321
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Renal salt wasting, Hypospadias	OMIM:201910
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Alopecia, Aplasia/Hypoplasia of the spleen, Leukop...	ORPHA:227982
Cockayne Syndrome Type 1	Pigmentary retinopathy, Foot joint contracture, Renal insufficiency, Proteinuria, Anemia, Hepatom...	ORPHA:90321
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Sc...	ORPHA:90038
Cardiocranial Syndrome, Pfeiffer Type	Abnormal hair whorl, Sparse hair	ORPHA:2872
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem...	ORPHA:31826
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Skeletal muscle atrophy, Hemophagocytosis, Fine hair, Oroticacidur...	OMIM:222700
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Palmar telangiectasia, Absent eyelashes, Absent eyebro...	OMIM:607823
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Tricuspid regurgitation, Mitr...	OMIM:261990
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hypertension, Hirsutism	OMIM:615830
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Facial erythema, Pallor	ORPHA:439218
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Multiple lentigines, Abnormality of the ureter, Enlarged polycystic ...	ORPHA:2869
Chromosome 15Q25 Deletion Syndrome	Intrauterine growth retardation, Polysplenia, Macrocytic anemia	OMIM:614294
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Abnormality of urine homeostasis,...	ORPHA:1414
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Lymphocytosis, Myocarditis, Tubulointerstitial nephritis, Neph...	ORPHA:139402
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Myopathy,...	ORPHA:42
Pituitary Adenoma 4, Acth-Secreting	Hypertension, Skeletal muscle atrophy, Nephrolithiasis, Hirsutism	OMIM:219090
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Milroy Disease	Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Varicose veins, Peda...	ORPHA:79452
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Breast aplasia, Abnormal fingern...	ORPHA:2036
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Cutaneous abscess, Hypertrichosis, Stage 5 chronic kidney disease, ...	ORPHA:101330
Gapo Syndrome	Alopecia, Sparse eyebrow, Hypopigmented skin patches, Nephrolithiasis, Sparse eyelashes, Early ba...	ORPHA:2067
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, S...	OMIM:129400
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Hematuria, Thrombocytopeni...	ORPHA:160
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Secundum atrial septal defect, Hypertension, Absence of renal corticomedullary ...	OMIM:619758
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:615630
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia, Anemia, Flexion contracture	OMIM:226600
Garg-Mishra Progeroid Syndrome	Sparse hair, Cafe-au-lait spot, Small nail	OMIM:620601
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Livedoid Vasculopathy	Hyperpigmented streaks, Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Telangiectasia...	ORPHA:542643
Kleefstra Syndrome	Highly arched eyebrow, Supernumerary nipple, Tetralogy of Fallot, Renal insufficiency, Vesicouret...	ORPHA:261494
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia	OMIM:618885
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney disease, Hepatomegaly,...	OMIM:251000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Distal lower limb amyotrophy, Nail dystrophy, Generalized...	ORPHA:79396
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Hypertrichosis, Sparse body hair, Abnormal fingernail morphology, Nai...	ORPHA:678
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:261740
Bacterial Toxic-Shock Syndrome	Hypotension, Recurrent urinary tract infections, Shock, Renal insufficiency, Abscess, Increased c...	ORPHA:36234
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypochromic anemia, Leukocytosis, Splenomegaly	ORPHA:289157
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ...	ORPHA:213
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d...	OMIM:267010
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macroglossia, Acute kidney injury, Nephronophthisis, Fair hair, Hepatosplenomegaly, Stage 5 chron...	OMIM:266920
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Skeletal muscle hypertrophy	OMIM:600705
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insuff...	OMIM:208540
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Umbilical hernia, Intrauterine growth retardation, Acanthocytosis, Poikilocytosis	OMIM:618947
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Cystinosis, Nephropathic	Myopathy, Hematuria, Hepatomegaly, Aminoaciduria, Generalized aminoaciduria, Hypopigmentation of ...	OMIM:219800
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Cardiomyopathy, Renal tubular acidosis, 3-Methylglutaconic aciduria	ORPHA:324525
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Dilated cardiomyopathy, Renal amyloidosis, IgA deposition in the glomerul...	ORPHA:79408
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Cardiomyopathy, Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular l...	ORPHA:98907
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Cardiomegaly, Hypertensi...	OMIM:208000
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Leukocytosis, Bradycar...	ORPHA:94093
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Myopathy	OMIM:275630
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P...	OMIM:616843
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Adams-Oliver Syndrome 2	Alopecia, Limb hypertonia, Small nail, Low anterior hairline	OMIM:614219
Beta-Ketothiolase Deficiency	Hypotension, Ketonuria, Leukocytosis, Thrombocytosis, Hepatomegaly, Hypertension	ORPHA:134
Fanconi Anemia, Complementation Group C	Pancytopenia, Intrauterine growth retardation, Ventricular septal defect, Anemia, Reticulocytopen...	OMIM:227645
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, High anterior hairline, Toenail dysplasia, Dec...	ORPHA:2614
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Small nail, Fine hair, Elbow flexion contracture, Vesic...	ORPHA:96149
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ...	ORPHA:90068
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Alopecia, Myocardial infarction, Congestive heart failure	OMIM:176670
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d...	ORPHA:1010
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Alagille Syndrome	Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia, Telangiectasia of...	ORPHA:52
Intellectual Developmental Disorder, Autosomal Dominant 65	Low posterior hairline, Thin eyebrow, Sparse hair, Synophrys	OMIM:619320
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Shock, Lymphopenia, Leukopenia, Renal insufficiency, Leukocytosis, Thrombo...	ORPHA:319213
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Focal Dermal Hypoplasia	Alopecia, Multicystic kidney dysplasia, Camptodactyly of finger, Horseshoe kidney, Diastasis rect...	ORPHA:2092
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Complement Factor I Deficiency	Vasculitis, Recurrent urinary tract infections, Pyelonephritis, Renal insufficiency, Glomerulonep...	OMIM:610984
Sarcoidosis	Arrhythmia, Hepatomegaly, Tubulointerstitial nephritis, Heart block, Alopecia, Hypopigmentation o...	ORPHA:797
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, Aortic dissection, Abnormal venous morphology, Umbilical hernia, Mitral valv...	ORPHA:1900
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	ORPHA:2364
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma	ORPHA:654
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy...	OMIM:219730
Adrenocortical Carcinoma	Hypertrichosis, Increased urinary cortisol level, Palpitations, Abnormality of urine homeostasis,...	ORPHA:1501
Nail-Patella Syndrome	Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Ridged nail, Absence of pectoralis minor mus...	OMIM:161200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Le...	OMIM:615688
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Ane Syndrome	Alopecia, Multiple joint contractures, Hyperpigmentation of the skin, Hyperpigmented nevi, Genera...	ORPHA:157954
Pseudo-Torch Syndrome 1	Renal insufficiency, Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly	OMIM:251290
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Hirsutism, Bicuspid aor...	ORPHA:371428
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Dilatation of the renal pelvis, Atrial septal defect, Left-to-right...	OMIM:620510
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Abnormal myocardium...	ORPHA:36426
Hawkinsinuria	Sparse hair	OMIM:140350
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins...	ORPHA:727
Liddle Syndrome 1	Hypertension, Renal insufficiency	OMIM:177200
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Mitral valve prolapse,...	ORPHA:758
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Alopecia, Organic aciduria	OMIM:253260
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,...	ORPHA:980
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Splenomegaly, Hepatomegaly, Thrombocyt...	ORPHA:525731
Fontaine Progeroid Syndrome	Absent nipple, Coarse hair, Small nail, Hypertrichosis, Tricuspid regurgitation, Abnormal heart m...	OMIM:612289
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertension	ORPHA:280356
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin...	ORPHA:79101
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Tetrasomy 12P	Sparse eyebrow, Sparse hair	ORPHA:884
Sepsis In Premature Infants	Hypotension, Oliguria, Reversible renal failure, Leukocytosis, Splenomegaly, Bradycardia, Hepatom...	ORPHA:90051
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, G...	ORPHA:1071
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Fanconi Anemia, Complementation Group O	Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Small then...	OMIM:613390
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Sparse eyebrow, Sparse hair, Curly hair	OMIM:620075
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Craniolenticulosutural Dysplasia	Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars...	ORPHA:50814
Mercury Poisoning	Hypotension, Tachycardia, Acute kidney injury, Hypertension	ORPHA:330021
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Varicose veins, Splen...	OMIM:612541
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Eosinophilia, Hepatitis, Macrocytic anemia	ORPHA:199299
Morgagni-Stewart-Morel Syndrome	Hypertension, Hirsutism	ORPHA:77296
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Dravet Syndrome	Pallor	ORPHA:33069
Flynn-Aird Syndrome	Alopecia, Skeletal muscle atrophy	ORPHA:2047
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Megaloblastic anemia, Umbilical hernia	ORPHA:79351
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Lymphopenia, Portal hypertension, Nail dystrophy, Thrombocytopenia, An...	OMIM:620365
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys	OMIM:619111
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting...	OMIM:248250
Hellp Syndrome	Acute kidney injury, Hypotension, Microangiopathic hemolytic anemia, Decreased mean corpuscular h...	ORPHA:244242
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Nephrolithiasis	ORPHA:93160
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, E...	OMIM:201475
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ...	ORPHA:220393
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc...	OMIM:608978
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Leukocytosis, Eosinophilia, Hyperpigmentation of the skin, Neutropenia, Neut...	ORPHA:293173
Angioosteohypotrophic Syndrome	Venous malformation, Prominent superficial veins, Edema	ORPHA:75508
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hypertension	OMIM:608600
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai...	OMIM:257980
Joubert Syndrome With Hepatic Defect	Nephropathy, Highly arched eyebrow, Multicystic kidney dysplasia, Renal insufficiency, Splenomega...	ORPHA:1454
Von Hippel-Lindau Disease	Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Palpitations, Elevated urinary catechol...	ORPHA:892
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i...	ORPHA:900
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria...	ORPHA:2715
Lesch-Nyhan Syndrome	Megaloblastic anemia	OMIM:300322
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair, Cafe-au-lait spot	OMIM:250410
Fanconi Anemia, Complementation Group S	Long eyelashes, Sparse hair, Low anterior hairline	OMIM:617883
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair	ORPHA:284180
Rothmund-Thomson Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Aplastic anemia, Small nail, Alopecia totalis, Reti...	ORPHA:2909
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor, Growth delay	ORPHA:329971
Tetanus	Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev...	ORPHA:3299
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Nephrocalcinosis, Stage 5 chronic kidney disease, Pulmonary venous hypertension, Nephr...	ORPHA:79259
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Glucocorticoid Resistance, Generalized	Hypertension, Hirsutism	OMIM:615962
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sparse hair, Fragile nails	OMIM:242150
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Renal amyloidosis, Renal insufficiency	OMIM:134610
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Cyanosis, Tru...	OMIM:617478
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive...	OMIM:225060
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Ketonuria, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitati...	OMIM:220111
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia	OMIM:615605
Agel Amyloidosis	Cardiomyopathy, Stage 5 chronic kidney disease, Nail dystrophy, Proteinuria, Orthostatic hypotens...	ORPHA:85448
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Sparse eyebrow, Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelash...	ORPHA:75496
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,...	OMIM:616897
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Acute kidney injury, Oliguria, Brain abscess, Anuria, Leukocytosis, Hyperten...	ORPHA:544482
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Acute Intermittent Porphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti...	ORPHA:79276
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Rena...	ORPHA:3261
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Leukopenia, Vesicoureteral reflux, Hyperpigmentation of the skin,...	OMIM:603467
Fanconi Anemia, Complementation Group P	Horseshoe kidney, Pancytopenia, Vitiligo, Anemia, Pelvic kidney, Cafe-au-lait spot	OMIM:613951
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Cockayne Syndrome B	Pigmentary retinopathy, Dry hair, Abnormal hair morphology, Renal insufficiency, Splenomegaly, Pr...	OMIM:133540
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Dry hair, Hydroureter, Urinary retention, Subdural h...	ORPHA:90324
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Abnormality of skin pigmentation, Hypoplastic fingernail	ORPHA:2457
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Abnormal myocardium...	ORPHA:537
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Intrauterine growth retardation, Cardiomegaly	OMIM:618838
Pearson Syndrome	Pigmentary retinopathy, Glycosuria, Cardiomyopathy, Abnormal heart morphology, Pancytopenia, Rena...	ORPHA:699
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow, Fine hair	OMIM:190351
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia, Multiple cafe-au-lait spots, Camptodactyly of finger	ORPHA:85279
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Generalized Pustular Psoriasis	Congestive heart failure, Lymphopenia, Renal insufficiency, Leukocytosis, Abnormality of the nail	ORPHA:247353
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Pancytopenia, Pericardial effusion, Spleno...	OMIM:615846
Degcags Syndrome	Chronic kidney disease, Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Ventricular ...	OMIM:619488
Juvenile Paget Disease	Melanocytic nevus, Hypertension, Abnormality of retinal pigmentation	ORPHA:2801
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Sandhoff Disease	Skeletal muscle atrophy, Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepato...	OMIM:268800
Adenohypophysitis	Normochromic anemia	ORPHA:95512
Trichorhinophalangeal Syndrome Type 1	Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails	ORPHA:77258
Bone Marrow Failure Syndrome 5	Nail dystrophy, Reticular hyperpigmentation, Erythroid hypoplasia, Anemia, Pure red cell aplasia	OMIM:618165
Familial Dysautonomia	Renal insufficiency, Heterochromia iridis, Glomerulopathy, Orthostatic hypotension, Abnormality o...	ORPHA:1764
Lipodystrophy, Familial Partial, Type 3	Hypertension, Hirsutism	OMIM:604367
Cockayne Syndrome A	Pigmentary retinopathy, Dry hair, Retinal pigment epithelial mottling, Renal insufficiency, Splen...	OMIM:216400
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Hypotension, Alopecia totalis, Abnormal lymphocyte morphology, Nail dystrophy, Abnormal...	ORPHA:293978
Auriculocondylar Syndrome 2B	Sparse hair, Synophrys	OMIM:620458
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen...	OMIM:305100
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches	ORPHA:3453
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple...	OMIM:230740
Glutaric Aciduria Iii	Glutaric aciduria, Hypertension	OMIM:231690
Ruijs-Aalfs Syndrome	Sparse hair, Premature graying of hair	OMIM:616200
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Myopathy, Hypoplastic fingernail	ORPHA:257
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal fingernail morphology, Alopecia, Sparse hair	ORPHA:659
Seckel Syndrome 10	Ventricular hypertrophy, Glycosuria, Congestive heart failure, Elevated hemoglobin A1c, Hypertension	OMIM:617253
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal...	ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Arrhythmia, Hepatomegaly	OMIM:255120
Lipodystrophy, Familial Partial, Type 4	Hypertension, Skeletal muscle hypertrophy	OMIM:613877
Enlarged Parietal Foramina	Myelomeningocele, Venous malformation, Occipital encephalocele, Abnormal cerebral vein morphology	ORPHA:60015
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Alopecia, Ketonuria, Organic aciduria, Skeletal muscle atrophy	OMIM:210210
Jaberi-Elahi Syndrome	Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:617988
Relapsing Polychondritis	Alopecia, Large vessel vasculitis, Renal insufficiency, Abnormal aortic valve morphology, Hematur...	ORPHA:728
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas...	ORPHA:217346
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,...	ORPHA:416
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria	ORPHA:411543
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pigmentary retinopathy, Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Pulmonary embo...	ORPHA:79282
Phakomatosis Pigmentokeratotica	Melanocytic nevus, Unilateral renal hypoplasia, Nephroblastoma, Patchy alopecia, Arrhythmia, Rena...	ORPHA:2874
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Macroglossia, Sparse eyebrow, Hypopigmentation of the skin, Congestive hear...	OMIM:252500
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Serotonin Syndrome	Hypotension, Acute kidney injury, Rhabdomyolysis, Tachycardia, Hypertension	ORPHA:43116
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Proteinuria, Telangiectasia, Hypoplastic nipples, Chordee, Mic...	OMIM:300519
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arteriovenous malformation, Edema, Venous insufficiency	ORPHA:624
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Sparse eyelashes, Bradycardia	OMIM:610768
Neonatal Inflammatory Skin And Bowel Disease	Horizontal eyebrow, Chronic monilial nail infection, Left ventricular hypertrophy, Slow-growing s...	ORPHA:294023
Bartsocas-Papas Syndrome	Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Renal hypoplasia/aplasia, Apl...	ORPHA:1234
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Synophrys, Sparse hair, Fine hair, Low anterior hairline	ORPHA:391408
Insulin-Resistance Syndrome Type B	Nephritis, Alopecia, Glycosuria, Leukopenia, Hirsutism, Proteinuria, Enlarged polycystic ovaries,...	ORPHA:2298
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Ventr...	OMIM:106260
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent urinary tract infections, H...	ORPHA:731
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia, Congenital diaphragmatic hernia, Hypopigmented skin pat...	ORPHA:1647
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Peutz-Jeghers Syndrome	Iron deficiency anemia, Bile duct polyp, Neoplasm of the pancreas, Biliary tract abnormality	OMIM:175200
Erdheim-Chester Disease	Congestive heart failure, Abnormal pericardium morphology, Renal insufficiency, Abnormal aortic v...	ORPHA:35687
Tuberous Sclerosis Complex	Chronic kidney disease, Ungual fibroma, Stage 5 chronic kidney disease, Renal insufficiency, Card...	ORPHA:805
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Leukopenia, Leukocytosis, Pallor, Thrombocytosis, Anemia	ORPHA:20
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Vertebral artery aneurysm, Umbilical hernia, Dilatation of the cerebral ...	OMIM:619656
46,Xy Sex Reversal 6	Sparse axillary hair, Hirsutism	OMIM:613762
Kaposi Sarcoma	Abnormality of the spleen, Lymphedema, Venous insufficiency	ORPHA:33276
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car...	ORPHA:391428
Macs Syndrome	Alopecia, Sparse hair, Sparse eyebrow, Urethral stenosis	OMIM:613075
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bu...	ORPHA:99827
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f...	OMIM:615895
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Panhypophysitis	Normochromic anemia	ORPHA:95513
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hydroneph...	OMIM:617913
Hardikar Syndrome	Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, Atrial septal defect, Hepatomegaly,...	OMIM:301068
Adult Syndrome	Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axillary hair, Hypoplastic...	OMIM:103285
Fanconi Anemia	Hypopigmented skin patches, Renal hypoplasia/aplasia, Atrial septal defect, Hypospadias, Pyridoxi...	ORPHA:84
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Sparse eyelashes, Hydronephrosis, Patchy alopecia, Scarring alopecia...	ORPHA:35173
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion...	ORPHA:90186
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi...	OMIM:232300
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Pyomyositis	Renal insufficiency, Leukocytosis, Myositis, Sudden cardiac death, Recurrent cutaneous abscess fo...	ORPHA:764
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Alopecia, Leukocytosis, Generalized hypopigmentation, Micropenis, Flexion contr...	OMIM:619321
Primary Sjögren Syndrome	Normocytic anemia, Vasculitis, Arteritis, Lymphopenia, Leukopenia, Vitiligo, Decreased proportion...	ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Type 2 muscle fiber predominance, Organic aciduria, Skeletal muscle atrophy...	OMIM:619743
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair	ORPHA:1979
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Arteritis, Urinary bladder inflammation, Urethritis,...	ORPHA:449395
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Capillary fragility, Leukocytosis, Hirsutism, Hype...	ORPHA:96253
Bardet-Biedl Syndrome 9	Renal insufficiency, Bone spicule pigmentation of the retina	OMIM:615986
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Avian Influenza	Acute kidney injury, Congestive heart failure, Lymphopenia, Leukopenia, Rhabdomyolysis, Thrombocy...	ORPHA:454836
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Curl...	ORPHA:1517
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Leukemia, Renal agenesis, Horseshoe kidney, Abnormal heart morpholo...	OMIM:227646
Irida Syndrome	Pallor	ORPHA:209981
Mucopolysaccharidosis Type 3	Atrioventricular block, Coarse hair, Pigmentary retinopathy, Heparan sulfate excretion in urine, ...	ORPHA:581
Joubert Syndrome 37	Sparse hair	OMIM:619185
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Nephrolithiasis	OMIM:300323
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Intermi...	ORPHA:97282
Copper Deficiency, Familial Benign	Anemia, Early balding, Curly hair	OMIM:121270
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Abnormal heart morphology, Multiple muscular ventricular septal defe...	ORPHA:391641
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Premature graying of hair, Abnormal hair morph...	ORPHA:79474
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Tela...	ORPHA:221008
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy	ORPHA:98813
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Cardiofaciocutaneous Syndrome	Fine hair, Multiple lentigines, Aplasia/Hypoplasia of the eyebrow, Generalized hyperpigmentation,...	ORPHA:1340
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma	OMIM:194072
Shigellosis	Hypovolemic shock, Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis, Leukocytos...	ORPHA:810
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ...	OMIM:150400
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:603860
Pituitary Apoplexy	Normochromic anemia	ORPHA:95613
Blau Syndrome	Nephropathy, Camptodactyly of finger, Large vessel vasculitis, Stage 5 chronic kidney disease, Cl...	ORPHA:90340
Localized Scleroderma	Vasculitis, Skeletal muscle atrophy, Hypopigmented skin patches, Abnormal skin adnexa morphology,...	ORPHA:90289
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Bardet-Biedl Syndrome 17	Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Bone spicule pigmentation of ...	OMIM:615994
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myopathy, Rhabdomyolysis, Hepato...	ORPHA:157
Parkes Weber Syndrome	Arteriovenous malformation, Myelopathy, Vascular tortuosity, Venous malformation, Spinal arteriov...	ORPHA:90307
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Acute rhabdomyolysis	OMIM:268200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Primary Ciliary Dyskinesia	Polysplenia, Atrial situs ambiguous, Abnormal inferior vena cava morphology, Abnormal heart morph...	ORPHA:244
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Hypertension	ORPHA:79126
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale, Stage 1 chronic kidney disease	OMIM:618821
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Acanthocytosis, Neoplasm of the p...	ORPHA:97280
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Alopecia, Coarse hair, Renal insufficiency, Proteinuria, Hydronephr...	ORPHA:2750
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Telangiectasia...	ORPHA:220402
Meningococcal Meningitis	Shock, Hypotension, Renal insufficiency	ORPHA:33475
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Palpitations, Elevated ur...	OMIM:171400
Orofaciodigital Syndrome I	Alopecia, Dry hair, Abnormal heart morphology, Proteinuria, Hypertension, Sparse hair, Polycystic...	OMIM:311200
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Sparse hair	OMIM:613174
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Decreas...	ORPHA:542323
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypertension, Polyuria	OMIM:613677
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Fucosidosis	Decreased muscle mass, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Abnormality of the nail	ORPHA:349
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Small nail, Thin nail	OMIM:242100
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Pallor	OMIM:246450
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H...	ORPHA:231625
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy...	ORPHA:2309
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Dry hair, Pigmentary retinopathy, Skeletal muscle at...	ORPHA:191
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Sparse hair, Hypos...	OMIM:300661
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Hand-Foot-Genital Syndrome	Small nail, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obstruction, Vesicoureter...	OMIM:140000
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Lymphopen...	OMIM:619573
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Hypopigmentation of the skin, Fair hair, Cardiomyopathy, Recurrent urinary tract infect...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Hypopigmentation of the skin, Fair hair, Cardiomyopathy, Recurrent urinary tract infect...	ORPHA:363958
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Renal sodium wasting, Hypertension, Polyuria, Renal salt wasting, Renal ...	OMIM:612780
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Distal amyotrophy	ORPHA:412057
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defect, Atria...	OMIM:617159
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Anemia	OMIM:620366
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Alopecia, Cardiomyopathy, Bundle branch block, Myositis,...	ORPHA:93672
Von Hippel-Lindau Syndrome	Hypertension, Multiple renal cysts, Polycythemia, Renal cell carcinoma	OMIM:193300
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Atrioventricular block, Arterial occlusion, Hyperoxaluria, Renal insufficiency,...	OMIM:259900
Neurofibromatosis Type 1	Chronic myelogenous leukemia, Inguinal freckling, Hypopigmented skin patches, Melanocytic nevus, ...	ORPHA:636
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin, Calcinosis	ORPHA:90154
Fucosidosis	Macroglossia, Oligosacchariduria, Thick eyebrow, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycop...	OMIM:230000
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced rhabdomyolysis, Exercise-induced my...	ORPHA:284426
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor...	ORPHA:2306
Joubert Syndrome With Oculorenal Defect	Nephropathy, Highly arched eyebrow, Renal insufficiency	ORPHA:2318
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Renal agenesis, Horseshoe kidney, Mitral atresia, Vesicoureteral reflux, Re...	ORPHA:140952
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Hyperpigmentation of the...	ORPHA:90153
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Multiple lentigines, Long eyelashes, Hyperpigmentation of the skin, Curly hair...	OMIM:607721
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Alopecia, Small nail, Hydronephrosis, Abnormal cardiac septum morpholo...	OMIM:308050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Joubert Syndrome With Renal Defect	Nephropathy, Highly arched eyebrow, Renal insufficiency	ORPHA:220497
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A...	ORPHA:544488
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia	ORPHA:309031
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Hypertension, Myocardial infarction	OMIM:618620
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Familial Cutaneous Collagenoma	Cardiomyopathy, Congestive heart failure, Angina pectoris, Atrial septal defect, Abnormality of s...	ORPHA:53296
Acromegaly	Long penis, Abnormal fingernail morphology, Hypertrophic cardiomyopathy, Wide penis, Generalized ...	ORPHA:963
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Fumarase Deficiency	Polycythemia, Ascites, Pallor, Perimembranous ventricular septal defect, Polyhydramnios	OMIM:606812
Kikuchi-Fujimoto Disease	Vasculitis, Alopecia, Leukopenia, Splenomegaly, Myocarditis, Hepatomegaly, Lymphocytosis, Vasculi...	ORPHA:50918
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,...	ORPHA:411634
Xeroderma Pigmentosum	Aminoaciduria, Alopecia, Hypopigmented skin patches, Melanocytic nevus, Conjunctival telangiectas...	ORPHA:910
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Angioedema, Hepatosplenomegaly, Thrombocytosis, Pallor, Pleural effusion,...	ORPHA:3260
Thoracic Outlet Syndrome	Edema, Varicose veins	ORPHA:97330
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Pallor	OMIM:617675
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Alopecia, Small nail, Supernumerary nipple, Tetral...	OMIM:100300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Hypertension, Absent pubic hair, Absent axillary ...	ORPHA:90793
Scorpion Envenomation	Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart...	ORPHA:466677
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, 3-Methylglutaconic aciduria, Card...	OMIM:619259
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Hypertension, Arrhythmia, Hypospadias	OMIM:614052
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Nail...	ORPHA:221016
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hypertension	OMIM:615954
Pierson Syndrome	Skeletal muscle atrophy, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Dif...	OMIM:609049
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Aredyld Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1133
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair	OMIM:219150
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Necrotizing myopathy, Supraventri...	ORPHA:423
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:35710
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Supernumerary nipple, Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen...	ORPHA:466791
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Hypertension, Increased urinary potassium	ORPHA:231580
Thymic Carcinoma	Palpebral edema, Abnormal vena cava morphology, Edema	ORPHA:99868
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Ciliary Dyskinesia, Primary, 53	Polysplenia, Right aortic arch, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Persi...	OMIM:620642
Postinfectious Vasculitis	Bacterial endocarditis, Cerebral vasculitis, Cardiomyopathy, Ischemic stroke, Hematuria, Proteinu...	ORPHA:48435
Marshall-Smith Syndrome	Dysplastic aortic valve, Highly arched eyebrow, Hypertrichosis, Melanocytic nevus, Thick eyebrow,...	OMIM:602535
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Thenar muscle atrophy, Hirsutism, Low p...	ORPHA:2463
Costello Syndrome	Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Curly hair, Concave nail, Renal insufficiency, Ven...	OMIM:218040
Sting-Associated Vasculopathy, Infantile-Onset	Periungual erythema, Nailfold capillary tortuosity, Sparse hair, Nail dystrophy	OMIM:615934
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Bartsocas-Papas Syndrome 1	Alopecia, Arthrogryposis multiplex congenita, Small nail, Alopecia totalis, Patent foramen ovale,...	OMIM:263650
Distal Deletion 19P	Alopecia, Thick eyebrow, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atr...	ORPHA:96129
Sheehan Syndrome	Normochromic anemia	ORPHA:91355
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation	OMIM:617168
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Carey-Fineman-Ziter Syndrome	Hypertensive crisis, Skeletal muscle atrophy, Glandular hypospadias, Myopathy, Hydronephrosis, Fa...	ORPHA:1358
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis	OMIM:609638
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Fine hair, Renal insufficiency, Nephrolithia...	ORPHA:534
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Sparse lateral eyebrow, Supernumerary nip...	OMIM:616580
Mandibuloacral Dysplasia With Type A Lipodystrophy	Mottled pigmentation, Alopecia, Elbow flexion contracture, Camptodactyly, Calcinosis, Hepatomegal...	OMIM:248370
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiom...	OMIM:105210
Autosomal Recessive Robinow Syndrome	Alopecia, Multicystic kidney dysplasia, Camptodactyly of finger, Tetralogy of Fallot, Fingernail ...	ORPHA:1507
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Trichohepatoenteric Syndrome 1	Fine hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Generalized hypopigmentation, Brittle h...	OMIM:222470
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair	OMIM:613451
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Alopecia totalis, Mit...	ORPHA:740
Scarf Syndrome	Low posterior hairline, Hypoplastic nipples, Sparse hair	ORPHA:3134
Xfe Progeroid Syndrome	Proteinuria, Renal insufficiency, Hypertension	OMIM:610965
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Abnormality of retinal pigmen...	ORPHA:394
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:613026
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Mitral regurgitation, Mitral valve prolapse, Ventricular s...	OMIM:194050
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Alopecia	ORPHA:453533
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins	ORPHA:33001
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior...	OMIM:617506
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Anemia, Nephrotic syndrome, Abnormality of the bl...	ORPHA:29073
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia	OMIM:620651
Mucopolysaccharidosis Type 2, Severe Form	Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Heparan s...	ORPHA:217085
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow	OMIM:618644
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Abnormal heart morphology, Stage 5 chronic kidney disease, Palpitati...	OMIM:618250
Short Syndrome	Alopecia, Sparse hair	ORPHA:3163
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Blotching pigmentation of the skin, Ventricular septal defect, Bradycardia, Retinal hemorrhage, T...	OMIM:614653
Yellow Fever	Acute kidney injury, Anuria, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fra...	ORPHA:99829
Tay-Sachs Disease	Pallor	OMIM:272800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Hypomagnesemia 2, Renal	Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Somatomammotropinoma	Abnormal fingernail morphology, Hypertrophic cardiomyopathy, Generalized hyperpigmentation, Mitra...	ORPHA:314769
Cirrhosis, Familial	Increased level of L-fucose in urine, Pulmonary arterial hypertension, Hypertension	OMIM:215600
Mucopolysaccharidosis Type 2, Attenuated Form	Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Heparan s...	ORPHA:217093
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Multicystic kidney dysplasia, Unilateral renal agenesis, S...	OMIM:614527
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Horses...	ORPHA:99413
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Alopecia, Subungual hyperkeratosis, Atrichia, Multicystic kidney dyspl...	OMIM:308205
Mosaic Monosomy X	Hypoplastic left heart, Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Horses...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Horses...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Horses...	ORPHA:881
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hypertension	OMIM:103900
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Absent eyelashes, Low posterior hairline, Hyperpigmentation of the skin, Abs...	OMIM:115150
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Pate...	ORPHA:163956
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye...	OMIM:268400
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertension	OMIM:615238
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Bohring-Opitz Syndrome	Congenital contracture, Urinary retention, Hypertrichosis, Lower limb hypertonia, Nephroblastoma,...	ORPHA:97297
Familial Cerebral Saccular Aneurysm	Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage	ORPHA:231160
Noonan Syndrome 14	Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair	OMIM:619745
Biotinidase Deficiency	Alopecia, Limb muscle weakness, Organic aciduria	ORPHA:79241
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Small hypothenar eminence, Abnormal eyebrow morpholo...	ORPHA:2232
Cranioectodermal Dysplasia 3	Short nail, Nephronophthisis, Fine hair, Stage 5 chronic kidney disease, Broad nail, Sparse hair	OMIM:614099
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Shock, Lymphopeni...	ORPHA:99826
Hallermann-Streiff Syndrome	Sparse eyebrow, Fine hair, Sparse eyelashes, Telangiectasia, Pulmonary arterial hypertension, Spa...	OMIM:234100
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Syncope, Orthostatic hypotension, Anemia, Tachycar...	ORPHA:71273
Carney Triad	Gastrointestinal hemorrhage, Arrhythmia, Leiomyosarcoma, Anemia, Tachycardia, Hypertension	ORPHA:139411
Satoyoshi Syndrome	Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes	ORPHA:3130
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Ring Chromosome 13 Syndrome	Alopecia, Urogenital sinus anomaly, Abnormality of skin pigmentation, Micropenis, Cafe-au-lait sp...	ORPHA:96176
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypertension, Frontal balding, Hirsutism	ORPHA:786
Wagro Syndrome	Proteinuria, Hypertension, Nephroblastoma	OMIM:612469
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Abnormality of the nail, P...	ORPHA:37
Adrenomyeloneuropathy	Frontal balding, Urinary retention, Fine hair, Urinary bladder sphincter dysfunction, Lip hyperpi...	ORPHA:139399
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Melanocytic nevus, Hypertension, Abnormality of the nail	ORPHA:1555
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Cereb...	ORPHA:494424
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Hepatomegaly, Visceromegaly, Polycythemia, Hypertro...	ORPHA:116
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Renal hypoplasia, Shoulder flexion contracture, Fine hair, Tetralogy of Fallot, M...	OMIM:210710
Dubowitz Syndrome	Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Low ante...	ORPHA:235
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic...	ORPHA:904
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Supernumerary nipple, Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Hypospad...	ORPHA:397715
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Mitral valve prolapse, Carotid ...	ORPHA:536532
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Addison Disease	Normocytic anemia, Thymoma, Thiamine-responsive megaloblastic anemia	ORPHA:85138
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ...	OMIM:614816
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Venous insufficiency	ORPHA:137608
Ablepharon Macrostomia Syndrome	Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Abnormalit...	ORPHA:920
ERI1-related disease	Sparse hair, Anonychia, Low anterior hairline	OMIM:608739
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Elb...	ORPHA:95699
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Foix-Alajouanine Syndrome	Cervical myelopathy, Venous malformation, Myelopathy, Arteriovenous fistula	ORPHA:79093
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency...	OMIM:233450
Cohen Syndrome	Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Mitral valve prolapse, Low an...	ORPHA:193
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Melanocytic nevus, Hypertension, Mitral valve prolapse	OMIM:616914
Cranioectodermal Dysplasia 1	Chronic kidney disease, Short nail, Renal magnesium wasting, Fine hair, Stage 1 chronic kidney di...	OMIM:218330
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Thin eyebrow, Long eyelashes, Thick eyebrow, Hirsuti...	OMIM:615485
Scarf Syndrome	Low posterior hairline, Hypoplastic nipples, Sparse hair, Low anterior hairline	OMIM:312830
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Arthrogry...	OMIM:608013
Bardet-Biedl Syndrome	Chronic kidney disease, Skeletal muscle atrophy, Cardiomyopathy, Horseshoe kidney, Abnormal heart...	ORPHA:110
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Sparse eyelashes, Absent eyelashe...	OMIM:608156
Chondrodysplasia Punctata 2, X-Linked Dominant	Patchy alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:302960
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Chronic Graft Versus Host Disease	Alopecia, Urinary bladder inflammation, Pancytopenia, Nail dystrophy, Phimosis, Hematuria, Onycho...	ORPHA:99921
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Ischemic stroke, Congenital...	OMIM:208050
Liver Disease, Severe Congenital	Dry hair, Dilatation of the ventricular cavity, Ventricular septal defect, Atrial septal defect, ...	OMIM:619991
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Pallor, Anemia, Growth delay	ORPHA:667
Yunis-Varon Syndrome	Aplasia/Hypoplasia of the nails, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Renal arter...	ORPHA:3472
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability	OMIM:614227
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Linear Nevus Sebaceus Syndrome	Alopecia, Irregular hyperpigmentation, Melanocytic nevus	ORPHA:2612
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Fine hair, Sparse eyelashes	OMIM:257850
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Polymicrogyria, Vascular dilatation, Varicose veins, Pulmonic stenosis	OMIM:618343
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Nelson Syndrome	Lower limb muscle weakness, Increased urinary cortisol level, Generalized hyperpigmentation, Quad...	ORPHA:199244
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,...	ORPHA:2237
Poliomyelitis	Hypovolemic shock, Hypotension, Hypoplasia of the musculature, Skeletal muscle atrophy, Upper lim...	ORPHA:2912
Weaver Syndrome	Fine hair, Melanocytic nevus, Thin nail, Deep-set nails, Sparse hair	OMIM:277590
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias, Small nail, Hypoplastic fingernail	OMIM:123790
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Neutrophilia, Hepa...	OMIM:249100
Primary Progressive Freezing Gait	Urinary incontinence, Hypertension	ORPHA:75567
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo...	ORPHA:91387
Craniolenticulosutural Dysplasia	Forehead hyperpigmentation, Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Congenital Disorder Of Glycosylation, Type Iia	Long eyelashes, Sparse hair, Thick eyebrow, Hirsutism	OMIM:212066
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Lymphedema, Venous malformation, Varicose veins	OMIM:613089
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Congestive heart failure, Sparse eyelashes, Abnormali...	ORPHA:2108
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Renal insufficiency, Chordee, Hypospadias, Renal dysplasia	ORPHA:96179
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia	OMIM:615577
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Abnormal T-wave, Micropenis, Sparse hair	OMIM:241080
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension	OMIM:610489
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly, Limb hypertonia	OMIM:620306
Myhre Syndrome	Aortic valve stenosis, Fine hair, Skeletal muscle hypertrophy, Thick eyebrow, Ventricular septal ...	OMIM:139210
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Bloom Syndrome	Hypopigmentation of the skin, Recurrent urinary tract infections, Decreased proportion of CD4-pos...	ORPHA:125
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Dermatomyositis	Vasculitis, Alopecia, Abnormal eosinophil morphology, Sinus tachycardia, Inflammatory myopathy, E...	ORPHA:221
Marshall Syndrome	Sparse eyebrow, Sparse hair, Sparse eyelashes	ORPHA:560
Lipodystrophy, Familial Partial, Type 2	Increased intramuscular fat, Hirsutism, Hepatomegaly, Hypertension, Skeletal muscle hypertrophy	OMIM:151660
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Cafe-au-lait spot	OMIM:614114
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Thick hair, Coarse hair	ORPHA:357074
Ectopic Aldosterone-Producing Tumor	Epistaxis, Hypertension, Renal cortical adenoma	ORPHA:231632
Listeriosis	Acute kidney injury, Arteritis, Brain abscess, Congestive heart failure, Pyelonephritis, Abscess,...	ORPHA:533
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Cerebral hemorrhage, Anemia, Fi...	OMIM:600376
Cholera	Hypovolemic shock, Acute kidney injury, Hypotension, Decreased urine output, Tachycardia, Abnorma...	ORPHA:173
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Thick eyebrow, Facial hypotonia, Patchy alopecia, Micropenis, Flexi...	OMIM:300534
Myhre Syndrome	Abnormal penis morphology, Hypertension, Abnormal cardiac septum morphology, Hypospadias, Epispad...	ORPHA:2588
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Pallor, Dehydration	ORPHA:2131
Helix Syndrome	Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis	OMIM:617671
Nicolaides-Baraitser Syndrome	Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste...	OMIM:601358
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Nail dysplasia, Hypoplastic nipples, Mul...	ORPHA:69085
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Lower limb muscle weakness, Pulmonary arterial hypertension, Polyuria, Or...	OMIM:606721
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Hypertension	ORPHA:739
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension, Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Trichotillomania	Alopecia	OMIM:613229
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pulmonary insuff...	OMIM:208500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Trichiasis, Acute kidney injury, Moderate albuminuria, Hypopigmentatio...	ORPHA:95455
Oculodentodigital Dysplasia	Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha...	ORPHA:2710
Hunter-Macdonald Syndrome	Aortic regurgitation, Joint contracture of the hand, Mitral regurgitation, Mitral valve prolapse,...	OMIM:611962
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Sparse axillary hair, Hypoplastic...	OMIM:129900
Esophageal Atresia	Tetralogy of Fallot, Pallor, Ventricular septal defect, Polyhydramnios, Growth delay	ORPHA:1199
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Sparse hair, Sparse scalp hair	OMIM:612132
Zygomycosis	Nephritis, Gastrointestinal hemorrhage, Hematochezia, Brain abscess, Epistaxis, Renal insufficien...	ORPHA:73263
3Q29 Microdeletion Syndrome	Horseshoe kidney, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Abnormality of sk...	ORPHA:65286
Neurofibromatosis, Type I	Inguinal freckling, Renal artery stenosis, Multiple cafe-au-lait spots, Axillary freckling, Rhabd...	OMIM:162200
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Acute Transverse Myelitis	Urinary retention, Upper limb muscle weakness, Urinary bladder sphincter dysfunction, Abscess, Di...	ORPHA:139417
Smith-Lemli-Opitz Syndrome	Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Hypert...	OMIM:270400
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Coccidioidomycosis	Vasculitis, Vasospasm, Granuloma, Abnormality of the spleen, Cerebral ischemia, Renal insufficien...	ORPHA:228123
Mucopolysaccharidosis Type 2	Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve...	ORPHA:580
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Hydroureter, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails,...	ORPHA:2273
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Glass Syndrome	Nail dysplasia, Long eyelashes, Sparse hair	OMIM:612313
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Cranioectodermal Dysplasia 4	Stage 5 chronic kidney disease, Onychogryposis	OMIM:614378
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Neutropenia, Thro...	ORPHA:2330
Infant Botulism	Cardiac arrest, Hypotension, Hypertension	ORPHA:178478
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot	OMIM:613563
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Sparse hair, Thick eyebrow, Synophrys	OMIM:609460
22Q11.2 Deletion Syndrome	Hypertensive crisis, Renal hypoplasia, Gastrointestinal hemorrhage, Hypopigmented skin patches, T...	ORPHA:567
Hennekam-Beemer Syndrome	Mastocytosis, Hypotension, Irregular hyperpigmentation, Camptodactyly of finger, Generalized hype...	ORPHA:2135
Teebi-Shaltout Syndrome	Highly arched eyebrow, Sparse hair, Slow-growing hair, Low anterior hairline	OMIM:272950
Abetalipoproteinemia	Congestive heart failure, Acanthocytosis, Reticulocytosis, Abnormality of retinal pigmentation, M...	ORPHA:14
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Mitral valve prolapse	ORPHA:449291
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Hypoplas...	OMIM:617022
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephroblastoma, Ne...	ORPHA:99880
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Hypertension, Hyperpigmentation of the skin	OMIM:202010
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Skeletal muscle atrophy	OMIM:219080
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Alopecia, Tricuspid valve prolapse, Pulmonary arterial hypertension, Abnor...	ORPHA:2396
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodacty...	ORPHA:3107
Alexander Disease	Hypotension, Sudden cardiac death, Hyperpigmented nevi, Facial palsy, Hypertension	ORPHA:58
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, A...	ORPHA:284984
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency	OMIM:226980
Prolactinoma	Delayed puberty, Pallor	ORPHA:2965
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephroblastoma, Ne...	ORPHA:143
African Trypanosomiasis	Alopecia, Second degree atrioventricular block, Third degree atrioventricular block, Congestive h...	ORPHA:3385
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy	ORPHA:761
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Lymphopenia, Capillary fragility, Leukocytosis, Hirsutism, Hype...	ORPHA:99889
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Fine hair, Brittle hair	OMIM:618891
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Cystocele, Mitral regurgitation, Mitral valve prol...	OMIM:613795
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Neurooculorenal Syndrome	Highly arched eyebrow, Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agen...	OMIM:620305
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke, Hepatic a...	OMIM:175050
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Oculodentodigital Dysplasia	Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails	OMIM:164200
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Sparse hair, Small nail, Nail dysplasia	OMIM:614813
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Elevated urinary norepinephrine level, Palpitations, Hypertension associated...	ORPHA:653
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Developmental And Epileptic Encephalopathy 95	Highly arched eyebrow, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Art...	OMIM:618143
Menkes Disease	Umbilical hernia, Arterial stenosis, Venous insufficiency, Vascular dilatation, Intracranial hemo...	ORPHA:565
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Stroke, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins	OMIM:125310
Gaucher Disease	Splenic infarction, Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart v...	ORPHA:355
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Muscular dystrophy, Rhabdomyosarcoma, Nephrob...	ORPHA:1052
Hereditary Fructose Intolerance	Chronic kidney disease, Hepatomegaly, Renal insufficiency	ORPHA:469
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Ungual fibroma, Hematuria, Renal angiomyolip...	ORPHA:538
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Abnormality of the urinary system, Hydroureter, Thin eyebrow, Loss of eyelashes, Hydron...	ORPHA:2636
Pheochromocytoma/Paraganglioma Syndrome 4	Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level...	OMIM:115310
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Abnormal hair quantity...	ORPHA:91347
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Bone spicule pigmentation of the retina, ...	OMIM:268315
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Venous malformation, Splenomegaly	OMIM:612918
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ...	ORPHA:402075
White-Sutton Syndrome	Sparse hair	OMIM:616364
Leprosy	Epistaxis, Alopecia, Skeletal muscle atrophy, Sparse body hair, Abnormality of the spleen, Foot d...	ORPHA:548
Cornelia De Lange Syndrome	Highly arched eyebrow, Multicystic kidney dysplasia, Long eyelashes, Curly eyelashes, Thick eyebr...	ORPHA:199
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Thick eyebrow, Ureteropelvic junction obstruction, Atrial septal defect, H...	OMIM:300896
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Tricuspid regurgitation, Long eyelashes, Splenic cyst, Patent foramen oval...	OMIM:620371
Clapo Syndrome	Lymphedema, Venous malformation, Varicose veins	ORPHA:168984
Primary Sclerosing Cholangitis	Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Hepatosplenomegaly, Renal ins...	ORPHA:171
17Q11 Microdeletion Syndrome	Hypermelanotic macule, Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, ...	ORPHA:97685
Sotos Syndrome	Small nail, Hip contracture, Ventricular septal defect, Atrial septal defect, Abnormality of the ...	ORPHA:821
Leptospirosis	Acute kidney injury, Hypotension, Pulmonary hemorrhage, Rhabdomyolysis, Hepatomegaly, Arrhythmia,...	ORPHA:509
Exercise-Induced Malignant Hyperthermia	Hypotension, Acute kidney injury, Oliguria, Abnormal pulse pressure, Sinus tachycardia, Abnormal ...	ORPHA:466650
Kid Syndrome	Sparse eyebrow, Trichilemmoma, Nail dystrophy, Sparse eyelashes, Scarring alopecia of scalp, Spar...	ORPHA:477
Behcet Syndrome	Patchy alopecia, Raynaud phenomenon, Decreased level of D-mannose in urine	OMIM:109650
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Dark urine, Ventricular...	OMIM:619534
Wiedemann-Rautenstrauch Syndrome	Sparse eyebrow, Alopecia, Long penis, Small nail, Secundum atrial septal defect, Alopecia of scal...	OMIM:264090
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Hirsutism, Sparse hair, Toenail dysplasia, Synophrys	OMIM:300966
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Dilated cardiomyopathy, Hypopigmented skin patches, Hypertrophic cardi...	ORPHA:2556
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair	OMIM:616541
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Left ventricular systolic d...	ORPHA:51608
Xq21 Microdeletion Syndrome	Renal artery stenosis, Hypertension, Upper limb muscle weakness, Abnormality of the Achilles tendon	ORPHA:1435
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Nail dystrophy, Alopecia of scalp	ORPHA:436252
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In...	ORPHA:89938
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Prolonged PR interval, Alopecia, Dilated cardiomyopathy, Skelet...	ORPHA:273
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, Cardiomegal...	OMIM:620376
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Sympathetic Ophthalmia	Retinal hemorrhage, Alopecia, Vitiligo, Poliosis	ORPHA:79098
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Progressive flexion contractures, Torticollis	ORPHA:98808
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Sparse hair, Fine hair	ORPHA:444072
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Normochromic anemia	ORPHA:91500
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Renal artery stenosis, Supravalvular aortic ste...	ORPHA:391665
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria	ORPHA:1018
Viss Syndrome	Coronary sinus enlargement, Alopecia, Hypereosinophilia, Right ventricular hypertrophy, Mitral va...	OMIM:619472
Stuve-Wiedemann Syndrome 1	Sparse hair, Blotching pigmentation of the skin	OMIM:601559
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Venous insufficiency	ORPHA:2969
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormal heart valve morphology, Transient ischemic attack, Cystocele, Melanocytic nevu...	ORPHA:286
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie...	OMIM:610655
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Retinal pigment epithelial mottling	OMIM:219900
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Retinal hemorrhage, Subdural hemorrhage	ORPHA:25
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j...	ORPHA:51
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Neoplasm of the urethra, Phimosis, Abnormal toenail morphology, Urethral...	ORPHA:2908
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Alopecia universalis, Sparse hair, Nail dystrophy	ORPHA:158668
Woodhouse-Sakati Syndrome	Micropenis, Alopecia, Abnormal T-wave, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Digeorge Syndrome	Unilateral renal agenesis, Tetralogy of Fallot, Renal insufficiency, Splenomegaly, Ventricular se...	OMIM:188400
Double Outlet Left Ventricle	Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ...	ORPHA:3427
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly...	ORPHA:2072
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Transient neutropenia, Mitral valve prolapse, Ventricular se...	ORPHA:500095
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Liposarcoma	Varicose veins	ORPHA:69078
Focal Dermal Hypoplasia	Hypopigmentation of the skin, Supernumerary nipple, Horseshoe kidney, Bifid ureter, Ridged nail, ...	OMIM:305600
Telangiectasia, Hereditary Hemorrhagic, Type 1	Arteriovenous fistulas of celiac and mesenteric vessels, Polycythemia, Dilatation of mesenteric a...	OMIM:187300
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Sparse hair	OMIM:244450
Pseudohypoparathyroidism Type 1A	Low urinary cyclic AMP response to PTH administration, Prolonged QT interval, Hypertension, Calci...	ORPHA:79443
Low Phospholipid-Associated Cholelithiasis	Hypertension, Liver abscess	ORPHA:69663
Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Hypertension, Atrial septal defect	OMIM:613834
Apert Syndrome	Hypertension	ORPHA:87
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair	ORPHA:432
Varicose Veins	Varicose veins	OMIM:192200
Premature Aging Syndrome, Penttinen Type	Sparse hair	OMIM:601812
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Thin nail	OMIM:617799
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Uremic Pruritus	Chronic kidney disease, Stage 5 chronic kidney disease	ORPHA:94059
De Barsy Syndrome	Sparse hair	ORPHA:2962
Cartilage-Hair Hypoplasia	Sparse eyebrow, Sparse hair, Abnormality of retinal pigmentation	ORPHA:175
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Familial Osteodysplasia, Anderson Type	Thick eyebrow, Hypertension	ORPHA:2769
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Mitral valve prolapse, Ventricular septal defect, Varicose veins, Pedal edema	OMIM:617107
Alström Syndrome	Chronic kidney disease, Frontal balding, Hepatosplenomegaly, Glomerulonephritis, Urinary incontin...	ORPHA:64
Thymic Neuroendocrine Tumor	Abnormal vena cava morphology, Prominent veins on trunk	ORPHA:97289
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Myocardial infarction, Coronary artery stenosis	OMIM:615812
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Nephrolithiasis, Large cafe-au-lait macules with irregular margins, Hyperc...	ORPHA:652
Pallister-Killian Syndrome	Aortic valve stenosis, Hyperpigmented streaks, Supernumerary nipple, Congenital diaphragmatic her...	OMIM:601803
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Abscess, Orthostatic hypotension due to autonomic dysfunction, Anemia, To...	ORPHA:642
Calciphylaxis	Stage 5 chronic kidney disease	ORPHA:280062
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Umbilical hernia, Mitral valve prolapse, Venous insuff...	ORPHA:285
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Joint contracture of the hand, Camptodactyly of finger, Low-molecular-weight prote...	OMIM:309000
Down Syndrome	Sparse hair	ORPHA:870
Igg4-Related Submandibular Gland Disease	Eosinophilia, Renal insufficiency, Abnormality of the kidney	ORPHA:449432
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Retinal telangiectasia, Gastrointestinal ...	ORPHA:774
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Hypoplastic nipples, Sparse hair	OMIM:280000
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension	OMIM:219250
Ring Chromosome 7 Syndrome	Highly arched eyebrow, Situs inversus totalis, Low anterior hairline, Abnormality of skin pigment...	ORPHA:1449
Carney Complex	Spotty hyperpigmentation, Congestive heart failure, Multiple lentigines, Hirsutism, Ductal carcin...	ORPHA:1359
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Abnormal venous morphology	ORPHA:276280
Townes-Brocks Syndrome	Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Abnormal pulmo...	ORPHA:857
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sparse hair	OMIM:619869
Proteus Syndrome	Long penis, Thymus hyperplasia, Pulmonary embolism, Irregular hyperpigmentation, Central heteroch...	ORPHA:744
Autosomal Dominant Spastic Paraplegia Type 10	Varicose veins	ORPHA:100991
Blau Syndrome	Camptodactyly of finger, Pericarditis, Hypertension, Tendonitis, Flexion contracture of toe	OMIM:186580
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse eyebrow, Absent nipple, Small nail, Nail dystrophy, Hypoplastic nipples, Sparse hair	OMIM:620186
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Long eyelashes, Low anterior hairl...	OMIM:619841
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair	OMIM:151050
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair	OMIM:200110
Glomuvenous Malformation	Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation	ORPHA:83454
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Acute kidney injury, Shock, Thrombocytopenia, Intracran...	ORPHA:90062
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Renal...	OMIM:107480
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse axillary hair, Sparse pubic hair, Sparse body hair	ORPHA:90796
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Varicose veins	OMIM:314300
Paternal Uniparental Disomy Of Chromosome 6	Hypoplastic fingernail, Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macroglossia	ORPHA:96191
Ehlers-Danlos Syndrome, Vascular Type	Dilatation of the cerebral artery, Mitral valve prolapse, Descending aortic dissection, Ascending...	OMIM:130050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Sparse hair	OMIM:616682
Renpenning Syndrome 1	Sparse hair, Sparse lateral eyebrow, Brittle hair	OMIM:309500
Roberts Syndrome	Sparse hair	ORPHA:3103
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa	ORPHA:79280
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Vesicovaginal fistula, Horseshoe kidney, Hypertension, Chordee, Ca...	OMIM:201750
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Tetralogy of Fallo...	ORPHA:2044
Restrictive Dermopathy	Sparse eyebrow, Short nail, Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat ...	ORPHA:1662
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Congestive heart failu...	OMIM:182250
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal hirsutism, Sparse hair	OMIM:617157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Occipital Horn Syndrome	Vascular dilatation, Venous insufficiency	ORPHA:198
Trichorhinophalangeal Syndrome, Type Ii	Thick eyebrow, Alopecia of scalp, Sparse hair, Sparse scalp hair, Fragile nails	OMIM:150230
Keutel Syndrome	Hypertension, Pulmonic stenosis, Ventricular septal defect	OMIM:245150
Microphthalmia With Limb Anomalies	Venous insufficiency	ORPHA:1106
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Pigmentary retinopathy, Hirsutism, Sparse hair, Sparse scalp hai...	ORPHA:3455
Wrinkly Skin Syndrome	Short nail, Sparse hair, Fragile nails	OMIM:278250
Branchiooculofacial Syndrome	Supernumerary nipple, Premature graying of hair, Hypoplastic fingernail, White forelock, Low post...	OMIM:113620
Menke-Hennekam Syndrome 1	Long eyelashes, Sparse hair, Thick eyebrow	OMIM:618332
Wrinkly Skin Syndrome	Sparse hair	ORPHA:2834
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Primrose Syndrome	Sparse body hair, Dystrophic fingernails, Absent axillary hair, Absent facial hair, Sparse scalp ...	OMIM:259050
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cafe-au-lait spot	OMIM:268300
Norrie Disease	Venous insufficiency	ORPHA:649
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tal1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tal1.

No publications found that use IMPC mice or data for Tal1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tal1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tal1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tal1^{tm210442(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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