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

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
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