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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
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
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... ORPHA:1818
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis 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, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Abnormal hair morphology, Abnormality of the nail, Onychogryposis of toenails, Sp... ORPHA:1808
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni... ORPHA:1008
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Absent pubic hair, Small nail, Hype... ORPHA:189
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... OMIM:613237
Aredyld
Generalized hypotrichosis OMIM:207780
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Re... OMIM:603278
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:620056
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... OMIM:601894
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Generalized hirsutism ORPHA:2297
Hypotrichosis 7
Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly... OMIM:604379
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Griscelli Syndrome Type 3
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79478
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Hypertrichosis, Congenital Generalized, 2
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ... OMIM:613092
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Trimethylaminuria
Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis ORPHA:79278
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, White hair, Heter... OMIM:619947
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Dystrophic fingernails, Sparse scalp hair OMIM:614927
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair, Spott... ORPHA:79133
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia OMIM:618805
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty... ORPHA:241
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Lessel-Kubisch Syndrome
Premature graying of hair, Hypertension, Renal hypoplasia, Sparse pubic hair, Renal insufficiency OMIM:618681
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Hypermelanotic macule, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f... ORPHA:2251
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
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse eyebrow, Sparse b... OMIM:614237
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... OMIM:104100
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia OMIM:619013
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... 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
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Intra... OMIM:617021
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hyperechogenic kidneys, Hepatosplenom... OMIM:617610
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... OMIM:174000
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency, Anemia ORPHA:655
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy, Neut... OMIM:617056
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Distal upper limb amyotrophy, Focal segmental glomerulosclerosis, Proteinuri... OMIM:614455
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Erythroid hyperplasia, Pappenheimer ... OMIM:600462
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:600995
Acatalasemia
Microcytic anemia ORPHA:926
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia OMIM:619750
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th... OMIM:615885
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Nail-Patella-Like Renal Disease
Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia, Proteinuria OMIM:189800
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu... OMIM:616818
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A... ORPHA:79402
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Hypermelanotic macule, Anemia, Pancytopenia, Hypertension, Transient ... OMIM:242900
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Thin nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot, Sparse hair OMIM:618625
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:613944
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Multiple cafe-au-lait spots, Absent eyebrow,... ORPHA:1809
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Low posterior hairline, Leukopenia, Splenomegaly, Neutropenia, Hirsutism, Focal ... OMIM:617303
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Ermine Phenotype
White hair, Vitiligo, White eyelashes, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Vascular Malformation, Primary Intraosseous
Hypochromic anemia, Umbilical hernia OMIM:606893
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Increased proportion of HLA DR+ T c... ORPHA:398063
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Hypertension, Abnormal glomerular mesangium morpho... ORPHA:567544
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Reni Syndrome
Hyperpigmentation of the skin, Focal segmental glomerulosclerosis, Podocyte foot process effaceme... OMIM:617575
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Rena... OMIM:161900
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Distal amyotrophy, Long eyebrows, Long eyelashes, Sparse hair, Central heter... OMIM:275400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, Nail dystrophy, Ridged nail, T lymphocytopenia, Nail pits, Al... OMIM:601705
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Ventricular septal defect, Focal segmental glomerulosclerosis,... OMIM:616730
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Cholelithiasis OMIM:300752
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Srd5A3-Cdg
Microcytic anemia ORPHA:324737
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Choroidal Atrophy-Alopecia Syndrome
Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na... ORPHA:1433
Porphyria Cutanea Tarda
Porphyrinuria, Onycholysis, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Alopecia OMIM:176100
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy... OMIM:619155
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Increased blood pressure, Glomerular sclerosis, Renal insufficiency, Recurr... OMIM:619487
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Normochromic microcytic anemia, Microvesicular hepatic steatosis OMIM:610198
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Abnormal renal corticomedullary differentiation, Flexion contracture, Left ventricu... OMIM:616733
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis ORPHA:700
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Abnormality of skin pigmentation, Sparse body hair, Sparse hair ORPHA:1810
Epidermolysis Bullosa Acquisita
Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology ORPHA:46487
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse eyebrow, Nail ... OMIM:278150
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair OMIM:619692
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Focal segmental glomerulosclerosis OMIM:620425
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... ORPHA:231214
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia OMIM:612379
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Klippel-Trénaunay Syndrome
Ascites, Hepatomegaly, Microcytic anemia ORPHA:90308
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Spleno... OMIM:105200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Synophrys, Nephrotic syndrome, Proteinuria, Fine hair, Glomeru... OMIM:619428
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Decreased proportion of class-switched memory B cells,... OMIM:615559
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Intrauterine growth ... OMIM:620501
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Schimke Immuno-Osseous Dysplasia
Multiple lentigines, Hypermelanotic macule, Hypertension, Cerebral ischemia, Lymphopenia, Stage 5... ORPHA:1830
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Decreased level of coenzyme ... OMIM:607426
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Fabry Disease
Congestive heart failure, Ventricular septal hypertrophy, Urinary mulberry cells, Anemia, Angina ... OMIM:301500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Dermoodontodysplasia
Toenail dysplasia, Sparse scalp hair, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, ... ORPHA:1660
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Sparse scalp hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Nephrosialidosis
Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Pericardial effusion, Nephropathy OMIM:256150
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:161950
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Systemic Lupus Erythematosus 17
Hypertensive crisis, Leukopenia, Raynaud phenomenon, Thrombocytopenia, Lymphopenia, Autoimmune th... OMIM:301080
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Anemia, Macrocytic anemia OMIM:615438
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Galloway-Mowat Syndrome 4
Hypermelanotic macule, Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrot... OMIM:617730
Fibronectin Glomerulopathy
Glomerulopathy, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Micro... ORPHA:84090
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy... OMIM:619048
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Hypopigmentation of the skin, Nep... OMIM:269920
C3 Glomerulopathy
Acute kidney injury, Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Mesangial hypercel... ORPHA:329918
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia, Ascites ORPHA:295
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hypertension, Nephrotic syndrome, Abnormal mitral valve morphology, Proteinuria, Nephropathy ORPHA:1192
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Ventricular septal defect, Focal segmental glomerulosclerosis,... OMIM:618348
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair OMIM:227260
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenail... ORPHA:2325
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate... OMIM:612201
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Candidiasis, Familial, 1
Alopecia OMIM:114580
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S... OMIM:224750
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
L-Ferritin Deficiency
Alopecia OMIM:615604
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
Nephronophthisis 1
Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement ... OMIM:256100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Hepatomegaly, Increased urinary porphobilinogen, Hype... OMIM:121300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Glomerular sclerosis, Normochromic anemia, Weakne... ORPHA:247691
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Hypertension, Leukocytosis, Proteinuria, Cerebral hemorrhage, Cardio... OMIM:618886
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia OMIM:612073
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Coach Syndrome 3
Nephronophthisis, Anemia, Renal interstitial inflammation, Renal tubular atrophy, Renal interstit... OMIM:619113
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Frasier Syndrome
Glomerulopathy, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria... ORPHA:347
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair OMIM:618535
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Abnormality of retinal pigmentation, Chronic kidney disease, Stag... ORPHA:3156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612925
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Anemia, Dystrophic toenail, Patchy al... ORPHA:2930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Hypotrichosis 5
Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse eyelashes, Th... OMIM:612841
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Hypersegmentation of neutrophil nuclei, Macrocytic anemia OMIM:615578
Von Willebrand Disease
Thrombocytopenia, Microcytic anemia ORPHA:903
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Thrombocytopenia, Proteinuria, Arrhythmia, Micro... ORPHA:54057
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Br... OMIM:300280
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst 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, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Facial pa... OMIM:613156
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia ORPHA:318
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Sparse hair, Micropenis, Pigmentary retinopathy, Alopecia ORPHA:3363
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Hemolytic anemia OMIM:615010
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly OMIM:613561
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Hypertension, Uric ... ORPHA:976
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis... ORPHA:3208
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... ORPHA:656
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Hepatomegaly, Abnormality of the nail, A... ORPHA:2584
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Thrombocytopenia, Leukopenia ORPHA:27
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis OMIM:616084
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Short stature, Pallor, Thrombocytopenia, Atrial septal defect, Ventricular ... ORPHA:49827
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Asci... OMIM:259720
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Congenital Heart Block
Peripheral edema, Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, ... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia OMIM:619423
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Focal Facial Dermal Dysplasia Type Iii
Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Distichiasis, Spa... ORPHA:1807
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Hyperpigmentation of the skin, Sparse hair, Pili torti, ... OMIM:301845
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrophy, Proteinuria, Diffuse ... 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
Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body... OMIM:602400
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair OMIM:225050
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Absent pubic hair, Brittle hair, Slow-growing hair, Small nail, H... OMIM:129500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612926
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... OMIM:604536
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Waardenburg Syndrome, Type 4B
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Whit... OMIM:613265
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hypochromic microcytic anemia, Anemia, Cholestasis, Portal hypertensio... ORPHA:440713
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Uncombable hair, Sparse hair ORPHA:1264
Potocki-Shaffer Syndrome
Nephroblastoma, Hypertension, Micropenis, Anemia ORPHA:52022
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612924
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Noonan Syndrome 8
Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Left v... OMIM:615355
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Moderate intrauterine growth retardation, Microcytic anemia ORPHA:293967
Babesiosis
Congestive heart failure, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic ane... ORPHA:108
Lelis Syndrome
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper... ORPHA:140936
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Galloway-Mowat Syndrome 9
Coarse hair, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomeru... OMIM:619603
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Birk-Aharoni Syndrome
Macrocytic anemia OMIM:620071
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Prolonged neonatal jaundice, Abnormal ... ORPHA:79303
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo... OMIM:266200
Ethanolaminosis
Cardiomegaly OMIM:227150
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hematuria, Glomerular sclerosis, Hypertension associated with pheochrom... ORPHA:276621
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929