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:

Scl, bHLHa17, 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 (2015 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 body hair, Sparse axillary hair, Abnormality of the nail, Sparse eyebrow, Sparse hair, Spa...	OMIM:605389
Beta-Thalassemia, Dominant Inclusion Body Type	Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre...	OMIM:603902
Hypotrichosis 9	Sparse body hair, Sparse scalp hair	OMIM:614237
Hypotrichosis Simplex	Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, 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 11	Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis 10	Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair	OMIM:620199
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Diamond-Blackfan Anemia 13	Elevated red cell adenosine deaminase level, Normocytic anemia	OMIM:615909
Hypotrichosis 4	Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair	OMIM:146550
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemoglobin E Disease	Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom...	ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib	Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E...	OMIM:615631
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Witkop Syndrome	Nail pits, Ridged nail, Fine hair, Concave nail, Small nail, Sparse hair	OMIM:189500
Hemoglobin D Disease	Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co...	ORPHA:90039
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Erythroid hypoplasia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Thin toenail, Alopecia, Dystrophic toenail	OMIM:614928
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Onychogryposis of t...	OMIM:617294
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo...	ORPHA:67044
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Splenomegaly, Anemia	ORPHA:294
Alpha-Thalassemia	Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel...	ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy...	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, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly	OMIM:618852
Alpha-Thalassemia-Myelodysplastic Syndrome	HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia	ORPHA:231401
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Thrombocytopenia...	OMIM:615285
Tietz Syndrome	White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dysplasia, Concave nail, Absent eyelashes, Nail dystrophy, Sparse hair, Atrichia	OMIM:614931
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Curly hair, Fine hair, Sparse hair, Sparse eyelashes, Sparse scalp hair	OMIM:616760
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,...	ORPHA:2722
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti...	ORPHA:86841
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi...	OMIM:616860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia	ORPHA:46532
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Hemoglobin H Disease	HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly	OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:205950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an...	ORPHA:251380
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Graham Little-Piccardi-Lassueur Syndrome	Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal eyelash morphology, Abnormal toenail morphology, Irregular hyperpigmen...	ORPHA:1818
Overhydrated Hereditary Stomatocytosis	Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular...	ORPHA:3203
Alopecia Universalis Congenita	Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic 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	Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ...	OMIM:237800
Focal Segmental Glomerulosclerosis 2	Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Hypertension, Nephrotic synd...	OMIM:603965
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu...	OMIM:214450
Alopecia Areata 2	Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis	OMIM:610753
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Anemia, Sideroblastic, 1	Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Majeed Syndrome	Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti...	OMIM:609628
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse axillary hair, Abnormality of the nail, Absent eyebrow, Onychogryposis of toenails, Nail d...	ORPHA:1808
Sickle Cell Anemia	Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Cholesta...	ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ia	Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p...	OMIM:224120
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Albinism, Oculocutaneous, Type Iii	Partial albinism, Red hair, Albinism	OMIM:203290
Anemia, Sideroblastic, 5	Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia	OMIM:619523
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Melanocyt...	ORPHA:1008
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ...	OMIM:613673
Beta-Thalassemia	Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel...	ORPHA:848
Angioma Serpiginosum, X-Linked	Sparse hair, Fine hair, Nail dystrophy	OMIM:300652
Hidrotic Ectodermal Dysplasia	Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing...	ORPHA:189
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:3319
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Trichodysplasia-Xeroderma Syndrome	Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa...	ORPHA:3361
Alopecia Universalis	Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes	ORPHA:701
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dilution, Pigmentary	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	OMIM:126070
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental...	OMIM:613237
Alopecia Totalis	Alopecia of scalp, Alopecia	ORPHA:700
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Proteinuria, Renal insufficiency, Hypertension, Hematuria, Focal segmental glomerulosclerosis	OMIM:607832
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Renal cortical hyperech...	OMIM:619263
Aredyld	Generalized hypotrichosis	OMIM:207780
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Microcytic anemia, Thrombocytosis	OMIM:604416
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Hypotrichosis 8	Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair...	OMIM:278150
Hypertrichosis Lanuginosa Congenita	Double eyebrow, Congenital, generalized hypertrichosis	OMIM:145700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr...	OMIM:300835
Focal Segmental Glomerulosclerosis 1	Hyperechogenic kidneys, Proteinuria, Stage 5 chronic kidney disease, Anemia, Reduced renal cortic...	OMIM:603278
Alopecia Areata 1	Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis	OMIM:104000
Ectodermal Dysplasia 4, Hair/Nail Type	Sparse body hair, Pili torti, Congenital onychodystrophy, Onycholysis, Brittle hair, Alopecia, Ab...	OMIM:602032
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, M...	OMIM:620056
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Leukocyte Adhesion Deficiency, Type Iii	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly...	OMIM:612840
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:620049
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru...	OMIM:619201
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc...	OMIM:300908
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Monilethrix	Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair	OMIM:158000
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo...	ORPHA:98870
Hypotrichosis 7	Sparse body hair, Sparse axillary hair, Brittle hair, Abnormality of the nail, Abnormal sweat gla...	OMIM:604379
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Coarse hair, Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:234030
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Anemia, Tubul...	OMIM:613092
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly	OMIM:224100
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation	ORPHA:2222
Thumb Deformity And Alopecia	Increased groin pigmentation with raindrop depigmentation, Alopecia	OMIM:188150
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Tooth Agenesis, Selective, 8	Sparse hair, Sparse eyebrow	OMIM:617073
Focal Segmental Glomerulosclerosis 10	Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit...	OMIM:256020
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia	OMIM:312500
Glomerulopathy With Fibronectin Deposits 1	Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:137950
Glomerulopathy With Fibronectin Deposits 2	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Hyperten...	OMIM:601894
Nephrotic Syndrome, Type 17	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:618176
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Cyanosis, Transient Neonatal	Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly	OMIM:613977
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros...	OMIM:616002
Nephrotic Syndrome, Type 18	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:301028
Rh Deficiency Syndrome	Hepatosplenomegaly, Anisocytosis, Jaundice, Reticulocytosis, Hemolytic anemia, Hypochromia, Intra...	ORPHA:71275
Hypertrichosis, Congenital Generalized	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Focal Segmental Glomerulosclerosis 8	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler...	OMIM:615573
Autosomal Erythropoietic Protoporphyria	Cirrhosis, Cholelithiasis, Microcytic anemia	ORPHA:79278
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Abnormality of the nail, Alopecia totalis	OMIM:302000
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Trimethylaminuria	Trimethylaminuria, Anemia, Hypertension, Tachycardia, Splenomegaly, Neutropenia	OMIM:602079
Orotic Aciduria	Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi...	OMIM:258900
Focal Facial Dermal Dysplasia Type I	Spotty hypopigmentation, Spotty hyperpigmentation, Distichiasis, Low anterior hairline, Absent ey...	ORPHA:79133
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype...	OMIM:261000
Waardenburg Syndrome, Type 2F	Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp...	OMIM:619947
Ectodermal Dysplasia 5, Hair/Nail Type	Absent toenail, Dystrophic fingernails, Sparse scalp hair	OMIM:614927
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Hepatic steatosis, Microcytic anemia	OMIM:618805
Acquired Idiopathic Sideroblastic Anemia	Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ...	ORPHA:75564
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Hypoplastic fifth toenail, Nail dysplasia, Onychogryposis, Mottled pigmentation of the trunk and ...	OMIM:131960
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Dyschromatosis Universalis Hereditaria	Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Hypermelanotic macule, Multiple c...	ORPHA:241
Lessel-Kubisch Syndrome	Premature graying of hair, Renal insufficiency, Hypertension, Renal hypoplasia, Sparse pubic hair	OMIM:618681
Atransferrinemia	Hypochromic anemia, Abnormality of the liver	OMIM:209300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop...	OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Hypopigmented skin patches, Alopecia, Hyperpigmentation of the skin...	ORPHA:2251
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Spotty hypopigmentation, Reticulated skin pigmentation, Nail dysplasia, Hypomelanotic macule, Mot...	ORPHA:79397
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins...	OMIM:310468
Woolly Hair	Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S...	ORPHA:170
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Focal Segmental Glomerulosclerosis 6	Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria...	OMIM:614131
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy	OMIM:182690
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Hypochromic microcytic anemia, Sideroblastic anemia	OMIM:301310
Palmoplantar Keratoderma And Woolly Hair	Sparse body hair, Woolly hair, Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse scalp hair	OMIM:616099
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice	OMIM:206400
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Hypopigmentation of hair, Albinism	OMIM:606952
Primary Myelofibrosis	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype...	ORPHA:824
Monilethrix	Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, Brittle hai...	ORPHA:573
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Brittle hair, Alopecia, Hyperpigmentation of the skin, Sparse eyebrow, Leukonychi...	OMIM:104100
Nephrotic Syndrome, Type 7	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure...	OMIM:615008
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	Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia	ORPHA:169095
Dehydrated Hereditary Stomatocytosis 2	Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati...	OMIM:616689
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Primary Membranoproliferative Glomerulonephritis	Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ...	ORPHA:54370
Cardiomyopathy, Dilated, 1R	Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent...	OMIM:613424
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Extramedullary hematopoiesis, Anemia, Intrauterine growth retardation, Increased mean corpuscular...	OMIM:617021
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Choroidal Atrophy-Alopecia Syndrome	Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Ung...	ORPHA:1433
Erythroleukemia, Familial, Susceptibility To	Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel...	OMIM:133180
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia	OMIM:619013
Polycystic Kidney Disease 5	Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,...	OMIM:617610
Dominant Beta-Thalassemia	Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Jaundice, Extramedullary hematopoiesi...	ORPHA:231226
Ermine Phenotype	Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow	OMIM:227010
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Microcytic anemia, Sea-blue hi...	OMIM:257200
Nephronophthisis	Renal insufficiency, Abnormality of retinal pigmentation, Anemia	ORPHA:655
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu...	OMIM:174000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Hepatomegaly	OMIM:604273
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Anemia, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Neut...	OMIM:617056
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis	OMIM:616959
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, D...	OMIM:614455
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Hypotrichosis 13	Sparse hair, Abnormal sweat gland morphology, Woolly hair, Sparse eyelashes	OMIM:615896
Hypotrichosis 6	Brittle hair, Sparse eyebrow, Sparse hair, Sparse eyelashes, Pili torti	OMIM:607903
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi...	ORPHA:231222
Thanatophoric Dysplasia, Glasgow Variant	Hepatosplenomegaly, Anemia, Neonatal death	OMIM:273680
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
C3 Glomerulopathy 3	Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea...	OMIM:614809
Immunodeficiency 16	Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia	OMIM:615593
Hypotrichosis 14	Sparse body hair, Absent axillary hair, Short eyelashes, Sparse hair, Sparse pubic hair	OMIM:618275
Nephrotic Syndrome, Type 2	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:600995
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythroid hyper...	OMIM:600462
Acatalasemia	Microcytic anemia	ORPHA:926
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu...	OMIM:308990
Crandall Syndrome	Sparse body hair, Fine hair, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti	ORPHA:202
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia	OMIM:619750
Trichodental Dysplasia	Sparse hair, Fine hair, Brittle hair, Slow-growing hair	OMIM:601453
Uncombable Hair Syndrome	Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia	ORPHA:1410
Ataxia-Pancytopenia Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu...	ORPHA:2585
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria, Hypertension	OMIM:189800
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Anonychia, Scarring alopecia of scalp, Nail dystrophy, Abnormality of skin pigm...	ORPHA:79402
Sabinas Brittle Hair Syndrome	Nail dysplasia, Brittle hair, Dry hair, Nail dystrophy, Sparse hair	OMIM:211390
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Nail-Patella-Like Renal Disease	Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Hypertension	ORPHA:2613
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he...	OMIM:300946
Hereditary Spherocytosis	Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co...	ORPHA:822
Hypotrichosis 12	Sparse axillary hair, Abnormality of the nail, Abnormal sweat gland morphology, Slow-growing hair...	OMIM:615885
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Schimke Immunoosseous Dysplasia	Proteinuria, Pulmonary arterial hypertension, Stage 5 chronic kidney disease, Anemia, Hypermelano...	OMIM:242900
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Mesa...	OMIM:616818
Rothmund-Thomson Syndrome, Type 1	Cafe-au-lait spot, Absent eyelashes, Thin nail, Absent eyebrow, Nail dystrophy, Sparse hair	OMIM:618625
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias	OMIM:620044
Ataxia-Pancytopenia Syndrome	Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro...	OMIM:159550
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Hema...	OMIM:613944
Lipoprotein Glomerulopathy	Renal insufficiency, Proteinuria, Glomerulopathy, Mesangial hypercellularity	OMIM:611771
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse body hair, Nail dysplasia, Abnormal toenail morphology, Supernumerary nipple, Absent eyela...	ORPHA:1809
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
Heinz Body Anemias	Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia	OMIM:140700
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Atrial septal defect, Hepatomegaly, Hirsutism, Hypertrophic cardiomyopathy, Prot...	OMIM:617303
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Lecithin:Cholesterol Acyltransferase Deficiency	Normochromic anemia, Hemolytic anemia	OMIM:245900
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Coenzyme Q10 Deficiency, Primary, 6	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ...	OMIM:614650
Nephrotic Syndrome, Type 12	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo...	OMIM:616892
Vascular Malformation, Primary Intraosseous	Hypochromic anemia, Umbilical hernia	OMIM:606893
Erythrocytosis, Familial, 8	Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly	OMIM:222800
Dehydrated Hereditary Stomatocytosis	Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me...	ORPHA:3202
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis	OMIM:300752
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut...	OMIM:616216
Nephrotic Syndrome, Type 14	Proteinuria, Diffuse mesangial sclerosis, Micropenis, Stage 5 chronic kidney disease, Lymphopenia...	OMIM:617575
Galloway-Mowat Syndrome 8	Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria...	OMIM:618349
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b...	OMIM:601493
Refractory Celiac Disease	Increased proportion of HLA DR+ T cells, Normocytic anemia, Microcytic anemia, Macrocytic anemia,...	ORPHA:398063
Oliver-Mcfarlane Syndrome	Long eyelashes, Central heterochromia, Distal amyotrophy, Pigmentary retinopathy, Alopecia, Hypop...	OMIM:275400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti...	ORPHA:444463
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Hyperten...	OMIM:161900
Nephrotic Syndrome, Type 11	Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:616730
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Ridged nail, Alopecia, Nail dystrophy, Decreased helper T cell proportion, T lymphocyt...	OMIM:601705
Nephrotic Syndrome, Type 6	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:614196
Bone Marrow Failure Syndrome 6	Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor...	OMIM:618849
Osteopetrosis, Autosomal Recessive 2	Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancytopenia	OMIM:259710
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ...	OMIM:235700
Porphyria Cutanea Tarda, Type I	Hypertrichosis, Hyperpigmentation of the skin	OMIM:176090
Porphyria Cutanea Tarda	Facial hypertrichosis, Onycholysis, Hyperpigmentation in sun-exposed areas, Porphyrinuria, Alopecia	OMIM:176100
Aapoaiv Amyloidosis	Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Left...	ORPHA:439232
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly	ORPHA:228312
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney disea...	OMIM:619487
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Fine hair, Slow-growing hair, Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:129490
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia	OMIM:612527
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Hypertension, Rena...	OMIM:616733
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Loeffler Endocarditis	Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, Myocardia...	ORPHA:75566
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles	OMIM:601706
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Microvesicular hepatic steatosis, Intrauterine growth retardation	OMIM:610198
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Abnormality of skin pigmentation, Abnormal fingernail morphology	ORPHA:1810
Spastic Paraplegia-Nephritis-Deafness Syndrome	Proteinuria, Hypertension, Nephropathy	ORPHA:2820
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First...	OMIM:613694
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor	ORPHA:517
Idiopathic Non-Lupus Full-House Nephropathy	Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi...	ORPHA:567544
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Nephrotic Syndrome, Type 3	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc...	OMIM:610725
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane...	OMIM:617780
Trichothiodystrophy 9, Nonphotosensitive	Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy	OMIM:619692
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp...	OMIM:612158
Nephronophthisis 13	Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614377
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia	ORPHA:163596
Beta-Thalassemia Major	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Extramedullary hemat...	ORPHA:231214
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy	ORPHA:46487
Eosinophilia, Familial	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	OMIM:131400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Polycythemia Vera	Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit...	OMIM:263300
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Klippel-Trénaunay Syndrome	Hepatomegaly, Microcytic anemia, Ascites	ORPHA:90308
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Cln3 Disease	Vacuolated lymphocytes, Left ventricular hypertrophy, Pigmentary retinopathy, Urinary bladder sph...	ORPHA:228346
Immunodeficiency 69	Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly	OMIM:618963
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega...	OMIM:607624
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia	OMIM:608898
Erythrocytosis, Familial, 1	Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass	OMIM:133100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff...	OMIM:612714
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Hypotrichosis And Recurrent Skin Vesicles	Sparse body hair, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse hair, Sparse eyelashe...	OMIM:613102
Glycogen Storage Disease 0, Muscle	Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype...	OMIM:611556
Galloway-Mowat Syndrome 5	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:617731
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Anemia, Nephrotic syndrome, Glomerular sclerosis, Decreased level of coenzyme Q10 in...	OMIM:607426
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche...	OMIM:615559
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Proteinuria, Pulmonary arterial hypertension, Hypertension, Lymphopeni...	ORPHA:1830
Fabry Disease	Proteinuria, Anemia, Left ventricular hypertrophy, Arrhythmia, Renal insufficiency, Hypertension,...	OMIM:301500
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti...	OMIM:301006
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:598500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Nephrotic syndrome, Glomerular sclerosis, ...	OMIM:619428
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Sparse scalp hair, ...	ORPHA:1660
Nephrosialidosis	Bone-marrow foam cells, Renal insufficiency, Nephropathy, Nephrotic syndrome, Pericardial effusion	OMIM:256150
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation...	OMIM:604169
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Attrv122I Amyloidosis	Abnormal EKG, Reduced left ventricular ejection fraction, Anemia, Left ventricular hypertrophy, A...	ORPHA:85451
Overhydrated Hereditary Stomatocytosis	Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased...	OMIM:185000
Hypotrichosis With Juvenile Macular Degeneration	Freckling, Fine hair, Brittle hair, Melanocytic nevus, Pili torti, Sparse scalp hair	ORPHA:1573
Amyloidosis, Familial Visceral	Proteinuria, Hypertension, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly	OMIM:105200
Acute Erythroid Leukemia	Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia	ORPHA:318
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Galloway-Mowat Syndrome 4	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hypermelanotic macule, ...	OMIM:617730
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Parc Syndrome	Absent eyebrow, Alopecia, Absent eyelashes	OMIM:600331
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertro...	OMIM:619048
Preeclampsia	Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Elevated sys...	ORPHA:275555
Wt Limb-Blood Syndrome	Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia	OMIM:194350
Schopf-Schulz-Passarge Syndrome	Poroma, Sparse body hair, Onycholysis, Ridged nail, Small nail, Thin nail, Apocrine hidrocystoma,...	OMIM:224750
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse eyebrow, Sparse hair, Pili ...	ORPHA:113
Fibronectin Glomerulopathy	Microscopic hematuria, Proteinuria, Glomerulopathy, Cerebral hemorrhage, Renal insufficiency, Hyp...	ORPHA:84090
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:618278
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect	OMIM:619165
Infantile Liver Failure Syndrome 1	Hepatomegaly, Hepatic steatosis, Macrocytic anemia, Anemia	OMIM:615438
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Hema...	OMIM:161950
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Hypopigmentation of the skin, Congestiv...	OMIM:269920
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Renal insufficiency, Cardiomyopathy, Nephropathy...	ORPHA:1909
Diamond-Blackfan Anemia 5	Macrocytic anemia, Leukopenia, Reticulocytopenia, Erythroid hypoplasia	OMIM:612528
Alport Syndrome	Microscopic hematuria, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Glomer...	ORPHA:63
Waardenburg Syndrome, Type 2A	Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par...	OMIM:193510
Galloway-Mowat Syndrome 7	Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:618348
Osteopetrosis, Autosomal Recessive 3	Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia	OMIM:259730
C3 Glomerulopathy	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Hyperte...	ORPHA:329918
Fetal Parvovirus Syndrome	Thrombocytopenia, Intrauterine growth retardation, Ascites, Anemia	ORPHA:295
Tietz Albinism-Deafness Syndrome	Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis	OMIM:103500
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Anemia, Hypertension, Nephropathy, Abnormal mitral valve morphology, Nephrotic syndrome	ORPHA:1192
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Absent lower eyelashes, Low anterior hairline, Sparse hair	OMIM:227260
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Toenail dysplasia, Anemia, Alopecia, Abnormal fingernail morphology, Fingernail dysplasia, Hypopl...	ORPHA:2325
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, Alopecia, Lymp...	OMIM:301080
Maternally-Inherited Diabetes And Deafness	Proteinuria, Glomerulopathy, Arrhythmia, Renal insufficiency, Hypertension, Congestive heart fail...	ORPHA:225
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a...	OMIM:616278
Erythrocytosis, Familial, 3	Increased hematocrit, Increased hemoglobin, Increased red blood cell mass	OMIM:609820
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Peripartum Cardiomyopathy	Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo...	ORPHA:563
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia	ORPHA:499
Atrial Fibrillation, Familial, 6	Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular ejection fraction...	OMIM:612201
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,...	OMIM:540000
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Piebaldism, Partial albinism, Heterochro...	ORPHA:998
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Splenomegaly	OMIM:615010
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr...	ORPHA:206546
Idiopathic Steroid-Resistant Nephrotic Syndrome	Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pu...	ORPHA:567548
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease	OMIM:602114
Nephronophthisis 1	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ...	OMIM:256100
Albinism-Deafness Syndrome	Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Frasier Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency, Hypertension, Nephrotic syndrome, Focal segment...	ORPHA:347
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a...	OMIM:613697
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Leukocytosis, Cerebral hemorrhage, Anemia, Congenital thrombocy...	OMIM:618886
Mu-Heavy Chain Disease	Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:100024
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Cafe-au-lait sp...	OMIM:145250
Paget Disease Of Bone 6	Nephrocalcinosis, Left ventricular hypertrophy	OMIM:616833
Atypical Hemolytic Uremic Syndrome	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria	ORPHA:2134
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:613839
Congenital Pulmonary Veins Atresia Or Stenosis	Abnormal cardiac septum morphology, Hypertension	ORPHA:3188
Cardiomyopathy, Dilated, 1Kk	Mitral regurgitation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Congestive heart...	OMIM:615248
Coach Syndrome 3	Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Anemia, Renal...	OMIM:619113
Alopecia Antibody Deficiency	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology	ORPHA:1006
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au...	OMIM:601859
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal...	OMIM:601331
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia	OMIM:615715
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Chronic kidney disease, Hypertension, Nephronophthisis, Abnormali...	ORPHA:3156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Macroglossia, Left ventricular systolic dysfunction, Micropenis, Left ventricular hypertrophy, Mu...	OMIM:613156
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Raynaud phenomenon, Proteinuria, Normocytic anemia, Weakness of facial musculature, Cardiomyopath...	ORPHA:247691
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Microangiopathic hemolytic anem...	OMIM:612925
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Slow-growing hair, Sparse hair, Sparse eyelashes, Sparse scalp hair	OMIM:618535
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
L-Ferritin Deficiency	Alopecia	OMIM:615604
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly...	OMIM:603552
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Reticulocytosis, Splenomegaly	OMIM:179700
Cronkhite-Canada Syndrome	Sparse body hair, Patchy alopecia, Anemia, Dystrophic fingernails, Hepatomegaly, Dystrophic toena...	ORPHA:2930
Thrombotic Thrombocytopenic Purpura	Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Arrhythmia,...	ORPHA:54057
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Intrauterine growth retardation, Macrocytic anemia	OMIM:615578
Genetic Steroid-Resistant Nephrotic Syndrome	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,...	ORPHA:656
Familial Pseudohyperkalemia	Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hepatomegaly	OMIM:613561
Spherocytosis, Type 5	Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Uruguay Faciocardiomusculoskeletal Syndrome	Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Left atrial enlargement, Left ventricu...	OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at...	OMIM:608751
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites	ORPHA:100025
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Splenomegaly, Schistocytosis	OMIM:616084
Hypotrichosis 5	Absent axillary hair, Sparse eyelashes, Abnormality of the nail, Alopecia, Abnormal sweat gland m...	OMIM:612841
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Hypertension, Hepatomegaly, Elevated urinary delta-aminolevuli...	OMIM:121300
Hypotrichosis Simplex Of The Scalp	Abnormal eyelash morphology, Abnormality of the axillary hair, Abnormal eyebrow morphology, Fine ...	ORPHA:90368
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Niemann-Pick Disease, Type B	Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:607616
Plummer-Vinson Syndrome	Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Hepatomegaly, A...	ORPHA:2584
Osteopetrosis, Autosomal Recessive 5	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Stillbirth,...	OMIM:259720
Camos Syndrome	Renal insufficiency, Nephrotic syndrome	ORPHA:83472
Adenine Phosphoribosyltransferase Deficiency	Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Stage 5 chronic kidney dise...	ORPHA:976
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Short stature, Thrombocyto...	ORPHA:49827
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly	OMIM:610539
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,...	ORPHA:3208
Immunodeficiency 52	Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno...	OMIM:617514
Combined Oxidative Phosphorylation Deficiency 53	Hypochromic microcytic anemia, Hepatomegaly	OMIM:619423
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia, Hypertension	OMIM:166990
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Pancreatitis, Hepatomegaly, Macrocytic anemia, Thrombocytopenia	ORPHA:27
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Microcytic anemia, Neutropenia	OMIM:251900
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Trichoepithelioma, Coarse hair, Hyperpigmentation of the skin, Sparse hair,...	OMIM:301845
Renal Hypoplasia	Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic...	ORPHA:93101
Nephrotic Syndrome, Type 1	Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Glomerular ...	OMIM:256300
Majeed Syndrome	Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom...	ORPHA:77297
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Hypopigmented skin patches, Distichiasis, Highly arched eyebrow, Sparse l...	ORPHA:1807
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair, Abnormality of retinal pigmentation	ORPHA:1264
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612926
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega...	OMIM:256710
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Ectodermal Dysplasia/Skin Fragility Syndrome	Dystrophic fingernails, Alopecia of scalp, Absent eyelashes, Absent eyebrow, Nail dystrophy, Spar...	OMIM:604536
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Nephronophthisis 20	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral...	OMIM:617271
Cardiomyopathy, Familial Hypertrophic, 16	Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio...	OMIM:613838
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Decreased mean corpuscular volume, Hypochromia, Pallor, Growth delay, Poikilocytosis, Spl...	OMIM:615234
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Anemia, Cholestasis, Hepatitis, Portal hypertension, Hypochromic micro...	ORPHA:440713
Waardenburg Syndrome, Type 4B	Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro...	OMIM:613265
Clouston Syndrome	Nail dysplasia, Absent axillary hair, Onycholysis, Fine hair, Brittle hair, Alopecia, Small nail,...	OMIM:129500
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa...	OMIM:614470
Potocki-Shaffer Syndrome	Nephroblastoma, Hypertension, Micropenis, Anemia	ORPHA:52022
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia	OMIM:225050
Idiopathic Trachyonychia	Toenail dysplasia, Nail pits, Patchy alopecia, Ridged nail, Vitiligo, Abnormality of the periungu...	ORPHA:79153
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi...	OMIM:314050
Cardiomyopathy, Familial Hypertrophic, 14	Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction...	OMIM:613251
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612924
Bardet-Biedl Syndrome 16	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis	OMIM:615993
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Elevated hepatic i...	OMIM:206100
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap...	OMIM:614676
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Familial Reactive Perforating Collagenosis	Spotty hyperpigmentation, Chronic kidney disease, Abnormal fingernail morphology	ORPHA:79147
Noonan Syndrome 8	Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Curly hair, Atrial septal def...	OMIM:615355
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Sparse eyebrow, Sparse hair, Sparse ...	OMIM:602400
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Atrial fibrillation, Reduced left ventricular ejection fraction, Hy...	OMIM:613876
Babesiosis	Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Congestive hea...	ORPHA:108
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Galloway-Mowat Syndrome 9	Stage 5 chronic kidney disease, Coarse hair, Focal segmental glomerulosclerosis, Diffuse mesangia...	OMIM:619603
Oculocutaneous Albinism Type 3	Blue irides, Freckling, Iris hypopigmentation, White eyelashes, Hypopigmentation of the skin, Red...	ORPHA:79433
Fixed Subaortic Stenosis	Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, V...	ORPHA:3092
Pauci-Immune Glomerulonephritis	Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Small vessel vasculi...	ORPHA:93126
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Moderate intrauterine growth retardation, Microcytic anemia	ORPHA:293967
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Extramedullary hematopoiesis, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, G...	ORPHA:79303
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome	OMIM:613779
Albinism, Oculocutaneous, Type Ii	Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat...	OMIM:203200
Hemochromatosis, Type 2B	Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:613313
Frasier Syndrome	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:136680
Glut1 Deficiency Syndrome 2	Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612126
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia	OMIM:617441
Nephronophthisis 16	Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid...	OMIM:615382
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia	OMIM:615085
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Reticulocytosis, Intrauterine growth retardation, Decreas...	OMIM:266200
Immunodeficiency, Common Variable, 6	Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t...	OMIM:613496
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Cardiofaciocutaneous Syndrome 2	Curly hair, Fine hair, Sparse hair, Absent eyebrow	OMIM:615278
Dilated Cardiomyopathy With Ataxia

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