Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Tal1 MGI:98480

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

T cell acute lymphocytic leukemia 1

Synonyms:

Scl, bHLHa17, SCL/tal-1, Hpt

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tal1 mutations

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

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

Human diseases associated with Tal1 (1 diseases)
Human diseases predicted to be associated with Tal1 (2017 diseases)

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

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

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

Disease	Matching phenotypes	Source
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
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	Sparse scalp hair	OMIM:146520
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	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, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar...	ORPHA:2722
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Ectodermal Dysplasia, Trichoodontoonychial Type	Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,...	ORPHA:1818
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, 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	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Aredyld	Generalized hypotrichosis	OMIM:207780
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re...	OMIM:603278
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Insulin-Resistance Syndrome Type A	Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin	OMIM:302000
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	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, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Microcytic anemia	ORPHA:79278
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Ectodermal Dysplasia 5, Hair/Nail Type	Sparse scalp hair, Dystrophic fingernails, Absent toenail	OMIM:614927
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Hepatic steatosis, Pancreatitis, Microcytic anemia	OMIM:618805
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Lessel-Kubisch Syndrome	Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypertension	OMIM:618681
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ...	ORPHA:79397
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse...	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	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
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
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency, Anemia	ORPHA:655
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,...	OMIM:617056
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, F...	OMIM:614455
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hypochromic anemia, Erythroid hyper...	OMIM:600462
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Acatalasemia	Microcytic anemia	ORPHA:926
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia	OMIM:619750
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	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
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria, Thrombocytopenia	OMIM:189800
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Transient ischemic attack, Hypermelanotic macule, Proteinuria,...	OMIM:242900
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-lait spot	OMIM:618625
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Neutropenia, Atri...	OMIM:617303
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Hypochromic anemia	OMIM:606893
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis	OMIM:300752
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac...	OMIM:617575
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Hypoplasia of penis, Long eyebrows, Pigmentary retinopathy, Dist...	OMIM:275400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ...	ORPHA:1433
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Hepatomegaly, Renal insufficiency, Proteinuria, Portal hypertensi...	OMIM:619487
Porphyria Cutanea Tarda	Alopecia, Porphyrinuria, Onycholysis, Facial hypertrichosis, Hyperpigmentation in sun-exposed areas	OMIM:176100
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Hypertension, Abnormal renal corticomedullary differentiation, Left ventricu...	OMIM:616733
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles	OMIM:601706
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Intrauterine growth retardation, Microvesicular hepatic steatosis	OMIM:610198
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Cln3 Disease	Vacuolated lymphocytes, Pigmentary retinopathy, T-wave inversion, Bradycardia, Left ventricular h...	ORPHA:228346
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Klippel-Trénaunay Syndrome	Hepatomegaly, Ascites, Microcytic anemia	ORPHA:90308
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Nephrotic syndrome, Glomerula...	OMIM:619428
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Ragged-red muscle fibers, Nephrotic syndrome,...	OMIM:607426
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Hypermelanotic macule, Minimal change glom...	ORPHA:1830
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Fabry Disease	Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur...	OMIM:301500
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy	OMIM:105200
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, S...	ORPHA:1660
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Freckling, Pili torti	ORPHA:1573
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropathy	OMIM:256150
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure...	ORPHA:275555
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S...	OMIM:617730
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy...	ORPHA:84090
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,...	OMIM:619048
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Systemic Lupus Erythematosus 17	Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Leukopenia, Mitra...	OMIM:301080
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Infantile Liver Failure Syndrome 1	Hepatomegaly, Macrocytic anemia, Hepatic steatosis, Anemia	OMIM:615438
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Nephr...	OMIM:269920
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia, Intrauterine growth retardation	ORPHA:295
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Abnormal mitral valve morphology, Nephropathy, Anemia	ORPHA:1192
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia	ORPHA:499
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair...	OMIM:224750
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia	OMIM:615010
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Albinism-Deafness Syndrome	Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism	OMIM:300700
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Nephropathy, Pun...	ORPHA:247691
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
L-Ferritin Deficiency	Alopecia	OMIM:615604
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Hypertension, Acute kidney injury, ...	OMIM:618886
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Paget Disease Of Bone 6	Left ventricular hypertrophy, Nephrocalcinosis	OMIM:616833
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Nephrotic syndrome, Focal segment...	ORPHA:347
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Increased urinary porphobilinogen, Hypertension, Elevate...	OMIM:121300
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Chronic kidney disease, Stage 5 chronic kidney disease, Hype...	ORPHA:3156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Pigmentary retinopathy, Macroglos...	OMIM:613156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hypertens...	OMIM:612925
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplasti...	ORPHA:2930
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Micropenis	ORPHA:3363
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa...	ORPHA:54057
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hepatomegaly	OMIM:613561
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Syn...	OMIM:300280
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Vesi...	ORPHA:3208
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Recurrent urinary tract infection...	ORPHA:976
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Hypopigmented skin patches, Irregular hyperpigmentation, Ab...	ORPHA:2584
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Endoca...	ORPHA:60041
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Short stature, Megaloblastic anemia, Pallor, Atrial septal defect, Thr...	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromi...	OMIM:615234
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ...	OMIM:301845
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,...	ORPHA:1807
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic...	OMIM:612926
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia	OMIM:225050
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma, Anemia	ORPHA:52022
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic...	OMIM:612924
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Familial Reactive Perforating Collagenosis	Spotty hyperpigmentation, Chronic kidney disease, Abnormal fingernail morphology	ORPHA:79147
Noonan Syndrome 8	Curly hair, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal def...	OMIM:615355
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Fibrodysplasia Ossificans Progressiva	Alopecia, Anemia	ORPHA:337
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid...	OMIM:619603
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Moderate intrauterine growth retardation, Microcytic anemia	ORPHA:293967
Ethanolaminosis	Cardiomegaly	OMIM:227150
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal...	ORPHA:79303
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:276621
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Congest...	ORPHA:108
Porphyria Variegata	Proximal muscle weakness in upper limbs, Tachycardia, Neurogenic bladder, Chronic kidney disease,...	ORPHA:79473
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi...	OMIM:615382
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Intrauterine growth retardation, Microvesicular hepatic steatosis...	ORPHA:66634
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypochromic microcytic anemia, Anemia	OMIM:619147
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Vi...	ORPHA:140936
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist...	ORPHA:1209
Tangier Disease	Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Nail dystr...	OMIM:205400
Congenital Fibrinogen Deficiency	Tachycardia, Abnormality of the subungual region, Splenic rupture, Left ventricular hypertrophy, ...	ORPHA:335
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer...	OMIM:615862
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration	OMIM:614458
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy...	ORPHA:86812
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s...	ORPHA:320
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, He...	OMIM:614034
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair	ORPHA:1897
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebr...	ORPHA:39041
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated...	ORPHA:550
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Anemia	ORPHA:375
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelash...	OMIM:137940
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ...	OMIM:254900
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Anemia	ORPHA:28
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Pediatric Systemic Lupus Erythematosus	Dark urine, Alopecia, Myositis, Renal insufficiency, Proteinuria, Raynaud phenomenon, Pericardial...	ORPHA:93552
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Renal insufficiency, Exercise-induced myoglobinuria, Rhabdomyo...	OMIM:300653
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia	ORPHA:2959
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Liddle Syndrome	Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails...	ORPHA:1882
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Asymmetr...	OMIM:252920
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Flexion contracture, Apl...	ORPHA:158684
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Heart murmur, Abnormal heart...	ORPHA:1867
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop...	ORPHA:324
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia, Abnormality of the musculature of the limbs	ORPHA:3327
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive ...	OMIM:304790
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia	ORPHA:2123
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy	OMIM:616353
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Rhabdoid Tumor	Renal neoplasm, Hematuria, Hypertension, Anemia, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis, Renal insufficiency, Nephrotic syndrome	OMIM:105120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocyto...	ORPHA:79312
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:29072
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Erythrokeratodermia Variabilis	Alopecia, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Irregular hyp...	ORPHA:317
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum...	ORPHA:182050
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney, Histiocytosis	ORPHA:168569
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy...	ORPHA:85447
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Umbilical hernia, Anemia, Intrauteri...	ORPHA:99843
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Car...	OMIM:235200
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Scarring alopecia of scalp, Motheaten muscle fibers, Nail dystrophy, Nail dys...	OMIM:226670
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Congestive heart fai...	ORPHA:85450
Cantu Syndrome	Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph...	OMIM:239850
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly...	OMIM:619644
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Me...	OMIM:276700
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Splenomegaly, Nephrolithiasis, H...	OMIM:232220
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Mitral ...	OMIM:619167
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Reticulated skin pigmentation, Ureth...	OMIM:613990
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu...	ORPHA:2169
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Anemia	ORPHA:2668
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Anemia	ORPHA:510
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo...	ORPHA:507
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin...	ORPHA:97362
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney d...	ORPHA:110
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:1067
Oligomeganephronia	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Unilateral renal agenesis, Sec...	ORPHA:2260
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy	ORPHA:3222
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis	OMIM:606996
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Mogs-Cdg	Hepatomegaly, Alopecia, Left ventricular hypertrophy, Cardiomegaly, Thrombocytopenia, Hepatosplen...	ORPHA:79330
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Renal hypoplasia, Coarse hair, Nail dystrophy,...	ORPHA:75389
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency	ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Nephrotic syndrome, Left ve...	OMIM:617713
Vici Syndrome	Atrial septal defect, Hypopigmentation of hair, Left ventricular hypertrophy, Albinism, Congestiv...	OMIM:242840
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven...	ORPHA:251274
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo...	OMIM:615996
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Low anterior hairline, Muscular dystrophy	OMIM:613153
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Camptodacty...	OMIM:611209
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Epistaxis, Hypersplenism, Splenomegaly...	OMIM:230800
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Hematuria,...	OMIM:232240
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle fi...	OMIM:620235
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Epistaxis, Albinism...	OMIM:203300
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Sézary Syndrome	Skeletal muscle atrophy, Alopecia, Hepatomegaly, Splenomegaly, Nail dystrophy, Irregular hyperpig...	ORPHA:3162
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,...	ORPHA:48818
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a...	ORPHA:84081
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Optic Atrophy 1	Pallor	OMIM:165500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Nail pits, Reticular hyperpigmentation, Anemia, Leukopeni...	OMIM:127550
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic...	OMIM:617729
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Cholelithiasis	ORPHA:774
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Eosinop...	ORPHA:183
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Gand Syndrome	Sparse hair	OMIM:615074
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney...	OMIM:173900
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V...	OMIM:126320
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr...	OMIM:601214
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Hyperconvex nail, Flexion contracture, Interphalangeal th...	OMIM:613870
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Glycogen Storage Disease Ia	Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental ...	OMIM:232200
Denys-Drash Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma	ORPHA:220
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu...	ORPHA:300298
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Orthostatic Hypotension 2	Anemia	OMIM:618182
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Alopecia, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Nail dysplasia...	OMIM:615704
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff...	ORPHA:91139
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Al Amyloidosis	Howell-Jolly bodies, Abnormal EKG, Hepatomegaly, Abnormality of the kidney, Nephrotic syndrome, A...	ORPHA:85443
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Nephropathy	ORPHA:820
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ...	ORPHA:650
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Hereditary Coproporphyria	Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Extension of hair growth on tem...	ORPHA:79273
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Focal segmental glomerulosclerosis, Myopathy, ...	OMIM:616239
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Myoglobinuria, EMG: myo...	ORPHA:57
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Granulocytopenia	OMIM:606164
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Increased size of nasopharyngeal adenoids	OMIM:619769
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, Hyperpigmentation of the skin	ORPHA:50812
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Johanson-Blizzard Syndrome	Alopecia, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal hair pattern, Abnormal cardiac...	ORPHA:2315
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Oslam Syndrome	Anemia	OMIM:165660
Noonan Syndrome 10	Curly hair, Left ventricular hypertrophy, Ventricular septal defect, Sparse eyebrow, Mitral valve...	OMIM:616564
Mucopolysaccharidosis, Type X	Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in...	OMIM:619698
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Renal insufficiency, Rhabd...	ORPHA:713
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l...	OMIM:619468
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Elliptocytosis, Abnor...	ORPHA:86818
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Hepatomegaly, Splenome...	OMIM:263700
Spastic Paraplegia 23, Autosomal Recessive	Hyperpigmentation in sun-exposed areas, Premature graying of body hair, Multiple lentigines, Viti...	OMIM:270750
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Hereditary Mucoepithelial Dysplasia	Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair	ORPHA:1839
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut...	OMIM:615387
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aor...	ORPHA:101028
Diamond-Blackfan Anemia 7	Intrauterine growth retardation, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Hematuria, Abnormality of...	ORPHA:91547
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Heart murmur, Renal cyst, ...	ORPHA:166035
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Renal hypoplasia, Hyperten...	OMIM:617595
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Fine hair,...	OMIM:614748
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Elevated hemoglob...	OMIM:619127
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, ...	ORPHA:536
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia	OMIM:212360
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction	OMIM:608320
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis...	OMIM:609057
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypospadias, Micropenis	OMIM:618840
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Lymphopenia	OMIM:182410
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension, Anemia, Decreased urinary potassium	OMIM:611489
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Alopecia, Pericarditis, Myositis, Hepatomegaly, Sp...	ORPHA:809
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen...	OMIM:613845
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Alopecia, Abnormality of...	ORPHA:90291
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi...	OMIM:235400
Colchicine Poisoning	Alopecia, Renal insufficiency, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolemia, ...	ORPHA:31824
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic...	ORPHA:568051
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Hypotension, Arrhythmia, ...	ORPHA:188
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Dextrotransposition of t...	OMIM:618619
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, P...	ORPHA:88630
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Pallor	OMIM:500007
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Thrombocytopenia	ORPHA:858
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp...	OMIM:615418
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Normochromic anemia, Cholelithiasis, Thrombocytopenia	OMIM:618775
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Cafe-au-lait spot, Multiple lentigines, Sparse hair...	OMIM:615280
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Cor pulmonale, Melena, Hematuria, Coarse hair, Nail dystrophy, Nail dyspl...	OMIM:158310
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo...	ORPHA:251004
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic...	OMIM:619355
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubulointerstitial nep...	ORPHA:358
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency	ORPHA:890
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Noonan Syndrome 6	Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait...	OMIM:613224
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Hepatomegaly	OMIM:607906
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Mitral valve prolapse, Hypertrichosis	OMIM:247410
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Large vessel vasculit...	ORPHA:49041
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Thrombocytopenia	ORPHA:401945
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Bresek Syndrome	Hypoplasia of the bladder, Alopecia, Renal hypoplasia, Vesicoureteral reflux, Renal dysplasia	ORPHA:85284
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Cardiomyopathy, Nephro...	ORPHA:79327
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Recurr...	ORPHA:2970
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia	OMIM:152700
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiat...	OMIM:618541
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Dry hair, Abnormal atrioventricular valve physiology, Abno...	ORPHA:576
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ...	OMIM:619525
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Retinitis Pigmentosa 59	Hepatomegaly, Renal insufficiency, Micropenis	OMIM:613861
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Thin eyebrow	ORPHA:3242
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Ventricular septal defect, Subvalvular aortic stenosis, Atria...	OMIM:613001
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia	ORPHA:89937
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st...	ORPHA:280679
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri...	ORPHA:447
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Kury-Isidor Syndrome	Alopecia, Ventricular septal defect, Hydronephrosis, Hypertrichosis	OMIM:619762
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H...	OMIM:603554
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull...	OMIM:216360
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Alopecia, Hydroureter, Sparse eyelashes	OMIM:616367
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia, Flexion contracture	OMIM:203550
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Congestive heart failure, Hypercalciuria, Nephrocalcino...	ORPHA:428
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Periorbital hyperpigmentation, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Rhabdomyolysis, Red-brown urine, Increased muscle lipid content, Stage 5 chr...	ORPHA:228302
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Abnormality of skin pigmentation, Abnormality of the urinary...	ORPHA:79411
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Anemia, Hematochezia, Nail dystrophy, Nail dysplasia, Hyperpigmentation of the skin	OMIM:175500
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Hypopigmented skin patches, Anemia, Neutropenia,...	ORPHA:47
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Alstrom Syndrome	Hepatomegaly, Alopecia, Renal insufficiency, Congestive heart failure, Dilated cardiomyopathy, Pi...	OMIM:203800
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Stiff-Person Syndrome	Tachycardia, Asymmetric limb muscle stiffness, Hypertension, Proximal limb muscle stiffness, Viti...	OMIM:184850
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypertrophic cardiomyopathy, Aminoaciduria, Lacticaciduria	OMIM:619386
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c...	OMIM:611773
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Alopecia, Limb joint contracture, Melanocytic nevus	OMIM:612079
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness...	OMIM:300100
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Thrombocytopenia	ORPHA:79242
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve...	ORPHA:230851
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Generalized hyperpigmentation, Proteinuria, Abnormal...	ORPHA:79086
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ...	ORPHA:56
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ...	ORPHA:449285
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Pallor, Neutropenia, Atrial septal defect, Intrauterine...	OMIM:609053
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernail morphology, Hypermelanot...	ORPHA:1775
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Mitral valve prolapse, Nephropathy, Anonychia, Generalized hirsutism	ORPHA:1563
Jeune Syndrome	Abnormality of retinal pigmentation, Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolifera...	ORPHA:3226
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ...	OMIM:610377
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ...	ORPHA:368
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Conges...	ORPHA:506
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Abnormality of the kidney, Hypertension, Left ventricula...	OMIM:209900
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Myopathy, Generalized hirsutism, Hepatomegaly	ORPHA:363400
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess	OMIM:618282
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Dilated cardiom...	OMIM:613989
Hydatidiform Mole	Anemia	ORPHA:99927
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive...	ORPHA:363618
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, ...	ORPHA:974
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Sple...	ORPHA:91138
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Iron...	OMIM:300855
Tangier Disease	Hepatosplenomegaly, Anemia, Facial diplegia, Nail dystrophy, Left ventricular hypertrophy, Corona...	ORPHA:31150
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Non-Functioning Paraganglioma	Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur...	ORPHA:94080
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age...	ORPHA:411709
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Splenomegaly, Cardiomyopathy, Pallor	ORPHA:3386
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia	OMIM:615750
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair	ORPHA:2316
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Asplenia, Nephrocalcinosis, Pigmentary retinopathy, Nail dystrophy, Alopecia universali...	OMIM:240300
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Orthostatic hypotension, Neurogenic bladder, Hypospadias, Recurrent urinary tract infections, Sta...	OMIM:191800
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Renal insufficiency, Partial albinism, Epi...	ORPHA:79430
Overlap Myositis	Proximal muscle weakness in upper limbs, Abnormality of the kidney, Raynaud phenomenon, Perifasci...	ORPHA:206572
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction, Anemia	OMIM:208060
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Hy...	ORPHA:97283
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ...	ORPHA:79083
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic toenail, Nail d...	ORPHA:3253
Cranioectodermal Dysplasia 2	Atrial septal defect, Hepatomegaly, Renal insufficiency, Sparse eyelashes, Sparse eyebrow, Spleno...	OMIM:613610
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Splenome...	ORPHA:93473
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Pigmentary retinopathy, Mitral...	ORPHA:746
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Glycogen Storage Disease X	Myopathy, Renal insufficiency, Rhabdomyolysis, Myoglobinuria	OMIM:261670
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Hypertension, Myopathy, Muscular dystrophy, ...	OMIM:615980
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Raynaud phen...	ORPHA:1855
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Penoscrotal transposition, Small thenar eminence, Pulmonic stenosis, Camptodactyly, ...	OMIM:619148
Caudal Regression Syndrome	Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Ectopic kidney,...	ORPHA:3027
Muckle-Wells Syndrome	Renal insufficiency, Leukocytosis, Renal amyloidosis	OMIM:191900
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary arterial hypertension	OMIM:619064
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormality of skin pigmentation, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Hypertrichotic hyperpigmented patch, Joint contracture of the 5th finger, Atrial se...	OMIM:602782
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Incontinentia Pigmenti	Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Retinal hemorrhage, Nail...	OMIM:308300
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo...	OMIM:557000
Refsum Disease	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Renal insufficiency, Heart block, S...	ORPHA:773
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort...	ORPHA:3099
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Ab...	ORPHA:834
Acute Adrenal Insufficiency	Normocytic anemia, Orthostatic hypotension, Renal insufficiency, Myocardial infarction, Sparse ax...	ORPHA:95409
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Alopecia, Increased mean platelet volume	OMIM:617443
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo	ORPHA:101003
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Abnormal renal morpho...	OMIM:227650
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono...	OMIM:616217
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitr...	OMIM:212140
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo...	ORPHA:369929
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Melanocytic nevus, Hypoplastic ...	ORPHA:978
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Endocarditis, Hematuri...	ORPHA:549
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a...	OMIM:253270
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Telangiectasia, Onycholysis, Nail dystrophy, Facial telangie...	OMIM:614564
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Tarp Syndrome	Intrauterine growth retardation, Extramedullary hematopoiesis	ORPHA:2886
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Low anterior hair...	ORPHA:261222
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Flexion contracture, Stage 5 chronic kidney disease, Sparse hair, Mottled...	OMIM:608612
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren...	OMIM:243910
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Hypochromic anemia	ORPHA:99147
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic...	OMIM:300972
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor...	OMIM:613159
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria, I...	ORPHA:445038
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin...	OMIM:268130
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Long penis, Hirsuti...	ORPHA:90795
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven...	OMIM:605676
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	OMIM:256040
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia, Abnorma...	OMIM:266500
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Hyperp...	OMIM:305000
Lamellar Ichthyosis	Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo...	ORPHA:99845
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Alopecia, Myositis, Autoimmune thrombocytopenia, Splenomegaly, Neutr...	ORPHA:37042
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intrauterine growth retardation, Neutropenia, Reduced number of intrahepatic bile ducts, Megalobl...	ORPHA:79284
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutrope...	OMIM:260400
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red...	ORPHA:254892
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Flexion contracture	OMIM:215100
Proteus Syndrome	Splenomegaly, Venous malformation	OMIM:176920
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, F...	OMIM:601675
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Hypospadias, Renal salt wasting	OMIM:201910
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Impaired myocardial contractility, Absent toenail...	ORPHA:158687
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Long eyelashes	OMIM:616069
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ...	OMIM:214500
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus	ORPHA:2377
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh...	ORPHA:136
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Short stature, Pure red cell aplasia, Erythroi...	ORPHA:124
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Thick eyebrow	OMIM:611091
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi...	ORPHA:411536
Lead Poisoning	Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Renal tubula...	ORPHA:330015
Diamond-Blackfan Anemia 1	Macrocytic anemia, Thrombocytosis, Ventricular septal defect, Tricuspid stenosis, Congenital hypo...	OMIM:105650
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor...	ORPHA:79404
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leuk...	OMIM:251000
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope...	ORPHA:1667
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Thick hair, Ven...	ORPHA:363705
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Lacunar stroke, Alopecia, Transient ischemic attack, Urinary incontinence	OMIM:600142
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal defect, Absent eyela...	OMIM:106260
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension	ORPHA:767
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea...	OMIM:614376
Boutonneuse Fever	Leukopenia, Renal insufficiency, Vasculitis, Thrombocytopenia	ORPHA:83313
Familial Cervical Artery Dissection	Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, ...	ORPHA:36382
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Highly arched eyebrow, Synophrys,...	ORPHA:96147
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Myopathy, Renal ...	OMIM:614922
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri...	ORPHA:228308
Stiff Skin Syndrome	Hypertension, Nephrolithiasis	ORPHA:2833
Joubert Syndrome 14	Ventricular septal defect, Highly arched eyebrow, Renal cyst, Intracranial hemorrhage, Hypertension	OMIM:614424
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Hepatomegaly	ORPHA:79084
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia	ORPHA:90033
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature grayin...	OMIM:300845
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Werner Syndrome	Sparse scalp hair, Abnormality of retinal pigmentation, Skeletal muscle atrophy, Telangiectasia o...	ORPHA:902
Nephronophthisis 11	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pigmentary retinopathy...	OMIM:253250
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Hypertension, Limb muscle weakness, Iris hypopigmentation	ORPHA:97229
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:612933
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Hyperpigmentation of the skin, Renal agenesis, Ectopi...	OMIM:600901
Giant Cell Arteritis	Alopecia, Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Vasculitis, Hematur...	ORPHA:397
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy, Tachycardia	OMIM:618321
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Telangiectasia of t...	ORPHA:464
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Nephrolithiasis, Proximal amyotrophy, Hypertension, R...	ORPHA:189427
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve...	OMIM:118450
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitat...	ORPHA:505248
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Xanthinuria, Type Ii	Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria	OMIM:603592
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Hypertension, Patchy alopecia	OMIM:617763
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Sparse eyebrow, Flexion c...	OMIM:614008
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Pituitary Adenoma 4, Acth-Secreting	Hypertension, Nephrolithiasis, Hirsutism, Skeletal muscle atrophy	OMIM:219090
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy	OMIM:268020
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Hypospadias, Supernumerary nipple	ORPHA:3224
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Congesti...	OMIM:181270
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Variant Abeta2M Amyloidosis	Chronic kidney disease, Abnormal skeletal muscle morphology, Reduced left ventricular ejection fr...	ORPHA:314652
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Leukopenia, Tubulointerstitial nephriti...	ORPHA:227990
Monosomy 18P	Hypertension, Alopecia, Low posterior hairline	ORPHA:1598
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, A...	OMIM:222700
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Hypotension	ORPHA:83317
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Renal hypopla...	ORPHA:85321
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Anemia	OMIM:620040
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Chromosome 15Q25 Deletion Syndrome	Intrauterine growth retardation, Macrocytic anemia, Polysplenia	OMIM:614294
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl	ORPHA:2872
Peutz-Jeghers Syndrome	Melanonychia, Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter...	ORPHA:2869
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Abnormal venous mor...	ORPHA:79452
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Foot joint contracture, Hypermelanotic macule, Proteinuria, Pi...	ORPHA:90321
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Hypertension, Hemog...	ORPHA:90038
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma...	ORPHA:2036
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu...	ORPHA:42
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Nephronophthisis	OMIM:615630
Joubert Syndrome 3	Highly arched eyebrow, Stage 5 chronic kidney disease, Pigmentary retinopathy, Nephronophthisis, ...	OMIM:608629
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Alopecia, Hirsutism	OMIM:615830
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormality of skin...	ORPHA:1414
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Keutel Syndrome	Pulmonary arterial hypertension, Alopecia, Ventricular septal defect	ORPHA:85202
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Livedoid Vasculopathy	Pancytopenia, Hyperpigmentation of the skin, Telangiectasia of the skin, Leukocytosis, Hyperpigme...	ORPHA:542643
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy...	ORPHA:31826
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches, Nephrolith...	ORPHA:2067
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia	OMIM:618885
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myositis, Renal insufficiency, Abscess, Glomerulonephritis, Recurrent urinary...	ORPHA:36234
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Cardiac arrest, Myocarditis, Tubulointerstitial nephritis, Nep...	ORPHA:139402
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Tricuspid regurgitation, Sinus bradycardia, Fragile nails, Mitral regurgitation, Small ...	OMIM:261990
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Bicuspid aortic valve, Ventricular septal defect, Super...	ORPHA:261494
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Myopathy, Amino...	ORPHA:213
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Portal hypertension, Asplenia, Splenomegaly, Situs inversus to...	OMIM:208540
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Leukopenia, Tubulointerstitial nephriti...	ORPHA:227982
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, P...	OMIM:607823
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnormality of the na...	ORPHA:678
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis, Umbilical hernia, Intrauterine growth retardation	OMIM:618947
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Anemia	OMIM:226600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Hyperpigmentation of the skin, Depigmentation/hyperpigmen...	ORPHA:79396
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i...	ORPHA:79233
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ...	OMIM:619758
Porphyria Cutanea Tarda	Abnormal erythrocyte enzyme level, Hirsutism, Stage 5 chronic kidney disease, Porphyrinuria, Incr...	ORPHA:101330
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Nail-Patella Syndrome	Decreased muscle mass, Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture o...	ORPHA:2614
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Renal dysplasia, Sparse scalp hair, Hepatomegaly, Ureteral duplication, Stage 5 chronic kidney di...	OMIM:266920
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Renal tubular acidosis, Cardiomyopathy, Chronic kidney disease, 3-Methylglutaconic aciduria	ORPHA:324525
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Satoyoshi Syndrome	Skeletal muscle hypertrophy, Alopecia, Alopecia universalis	OMIM:600705
Castleman Disease	Renal insufficiency, Anemia, Decreased mean corpuscular volume, Hematuria, Restrictive cardiomyop...	ORPHA:160
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	ORPHA:2364
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Neuroleptic Malignant Syndrome	Tachycardia, Hypertensive crisis, Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocyt...	ORPHA:94093
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Anemic pallor, Short stature, Reticulocytopenia, Anemia,...	OMIM:227645
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Ab...	ORPHA:52
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di...	ORPHA:90068
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail, Limb hypertonia	OMIM:614219
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Myopathy	OMIM:275630
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia	OMIM:255120
Distal Deletion 12Q	Ectopic kidney, Elbow flexion contracture, Fine hair, Congenital hypertrophy of left ventricle, S...	ORPHA:96149
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin...	ORPHA:3322
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Alopecia, Abnormal granulocyte morphology, Cardiomyopathy, Shoulder girdle muscle w...	ORPHA:98907
Focal Dermal Hypoplasia	Alopecia, Multicystic kidney dysplasia, Telangiectasia of the skin, Ventricular septal defect, Co...	ORPHA:2092
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma	ORPHA:654
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical hernia, Abnormal venous ...	ORPHA:1900
Nail-Patella Syndrome	Ridged nail, Biceps aplasia, Renal insufficiency, Proteinuria, Glomerulonephritis, Concave nail, ...	OMIM:161200
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Hypertension, Hypotension, Thrombocytosis	ORPHA:134
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splen...	OMIM:615688
Adrenocortical Carcinoma	Increased urinary cortisol level, Hypertension, Palpitations, Abnormality of urine homeostasis, H...	ORPHA:1501
Biotinidase Deficiency	Splenomegaly, Alopecia, Organic aciduria, Hepatomegaly	OMIM:253260
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Microscopic hematuria, Myocarditis, Leukocytosis, Oliguria, Subconjun...	ORPHA:319213
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Liddle Syndrome 1	Hypertension, Renal insufficiency	OMIM:177200
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Splenomegaly, Leukocytosis, Oliguria, Anemia, Bradycardia, Hypotension...	ORPHA:90051
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Splenomegaly, Congestive heart failure, Neutropenia in presenc...	ORPHA:525731
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertension	ORPHA:280356
Ane Syndrome	Alopecia, Multiple joint contractures, Generalized amyotrophy, Hyperpigmented nevi, Hyperpigmenta...	ORPHA:157954
Absence Of The Pulmonary Artery	Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Pedal edem...	ORPHA:980
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bacterial endocarditis, S...	ORPHA:97214
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small thenar eminence, Hyd...	OMIM:613390
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Hawkinsinuria	Sparse hair	OMIM:140350
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul...	ORPHA:797
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia	ORPHA:2047
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges...	ORPHA:727
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Fontaine Progeroid Syndrome	Sparse scalp hair, Atrial septal defect, Absent nipple, Tricuspid regurgitation, Bicuspid aortic ...	OMIM:612289
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial sept...	OMIM:612541
Rothmund-Thomson Syndrome	Calcinosis, Aplastic anemia, Sparse eyelashes, Alopecia totalis, Telangiectasia of the skin, Spar...	ORPHA:2909
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Glomerulonephritis, Vasculitis, Pyelonep...	OMIM:610984
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Tetrasomy 12P	Sparse hair, Sparse eyebrow	ORPHA:884
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction	OMIM:176670
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Sudden cardiac death, Cardi...	OMIM:201475
Morgagni-Stewart-Morel Syndrome	Hypertension, Hirsutism	ORPHA:77296
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, Nail dystrophy...	ORPHA:293978
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys	OMIM:619111
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation, Edema	ORPHA:75508
Mercury Poisoning	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:330021
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo...	ORPHA:244242
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Umbilical hernia, Intrauterine growth retardation, Megaloblastic anemia	ORPHA:79351
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Renal insufficiency, Eosinophilia, Gl...	ORPHA:3261
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytop...	OMIM:620365
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Myocardial infar...	ORPHA:36426
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul...	ORPHA:892
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e...	ORPHA:1071
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Nephrolithiasis	ORPHA:93160
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Hyperprolinemia Type 2	Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra...	ORPHA:79101
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Patent foramen ovale, Thrombocytopenia	OMIM:251290
Renal Hypodysplasia/Aplasia 1	Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hepatomegaly	OMIM:608600
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch...	OMIM:617478
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hepatitis, Eosinophilia	ORPHA:199299
Acute Intermittent Porphyria	Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Renal insufficiency, Urinary in...	ORPHA:79276
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O...	ORPHA:220393
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline	OMIM:617883
Dravet Syndrome	Pallor	ORPHA:33069
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Highly arch...	ORPHA:1454
Tetanus	Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens...	ORPHA:3299
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia, Hyperpigmentation of ...	ORPHA:293173
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, A...	ORPHA:900
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Glomerulopathy, Proteinuria, Hypopigmen...	ORPHA:2715
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline	ORPHA:284180
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture...	ORPHA:75496
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ...	OMIM:617641
Lesch-Nyhan Syndrome	Megaloblastic anemia	OMIM:300322
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot	OMIM:250410
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Dilated card...	ORPHA:79408
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Hypospadias, Low anterio...	OMIM:220111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Epistaxis, Chronic neutropenia, Stage 5 chronic kidney disease, Enlarg...	ORPHA:79259
Agel Amyloidosis	Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Cardiomyopathy, Abnormal spleen morpho...	ORPHA:85448
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Hyperpigmentation of the skin, Renal insufficiency, ...	ORPHA:699
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Hypertensive crisis, Anuria, Myocarditis, Leukocytosis, Oliguria...	ORPHA:544482
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Vesicoureteral reflux, Renal hypoplasia, Anemia, Leukopenia, Pelvi...	OMIM:603467
Mandibuloacral Dysplasia	Sparse hair, Abnormality of skin pigmentation, Alopecia, Hypoplastic fingernail	ORPHA:2457
Fanconi Anemia, Complementation Group P	Pancytopenia, Horseshoe kidney, Pelvic kidney, Cafe-au-lait spot, Anemia, Vitiligo	OMIM:613951
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Juvenile Paget Disease	Abnormality of retinal pigmentation, Hypertension, Melanocytic nevus	ORPHA:2801
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Glucocorticoid Resistance, Generalized	Hypertension, Hirsutism	OMIM:615962
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Anemia, Cardiomegaly	OMIM:618838
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Generalized Pustular Psoriasis	Renal insufficiency, Congestive heart failure, Leukocytosis, Lymphopenia, Abnormality of the nail	ORPHA:247353
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Multiple cafe-au-lait spots, Patchy alopecia, Camptodactyly of finger	ORPHA:85279
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Nail dystrophy, Anemia	OMIM:618165
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria	OMIM:210210
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Seckel Syndrome 10	Ventricular hypertrophy, Elevated hemoglobin A1c, Congestive heart failure, Hypertension, Glycosuria	OMIM:617253
Lipodystrophy, Familial Partial, Type 3	Hypertension, Hirsutism	OMIM:604367
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyo...	OMIM:616897
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Adenohypophysitis	Normochromic anemia	ORPHA:95512
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ...	ORPHA:465508
Glutaric Aciduria Iii	Hypertension, Glutaric aciduria	OMIM:231690
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Hypoplastic nipples, Nail...	OMIM:230740
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Cockayne Syndrome B	Hepatomegaly, Dry hair, Renal insufficiency, Proteinuria, Abnormal hair morphology, Splenomegaly,...	OMIM:133540
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Unilate...	ORPHA:90324
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Myopathy, Alopecia, Hypoplastic fingernail	ORPHA:257
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Hematemesis, Splenomegaly, Pericardial effusion, Va...	OMIM:615846
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Familial Dysautonomia	Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormality of the kid...	ORPHA:1764
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Megaloblastic anemia, Hemolyt...	ORPHA:79282
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy, Hypertension	OMIM:613877
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Leukopen...	OMIM:619488
Cockayne Syndrome A	Hepatomegaly, Dry hair, Hip contracture, Renal insufficiency, Proteinuria, Splenomegaly, Retinal ...	OMIM:216400
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Alopecia, Pericarditis, Renal insufficiency, Pro...	ORPHA:728
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t...	ORPHA:537
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri...	ORPHA:416
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Hypoplastic toenails, Dextrotransposition of the great arteries, Atrial s...	OMIM:306955
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Edema	ORPHA:624
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal...	OMIM:301068
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Congenital diaphragmatic he...	ORPHA:1647
Neonatal Inflammatory Skin And Bowel Disease	Horizontal eyebrow, Left ventricular hypertrophy, Slow-growing scalp hair, Chronic monilial nail ...	ORPHA:294023
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype...	ORPHA:731
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury	ORPHA:411543
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Phakomatosis Pigmentokeratotica	Nephroblastoma, Rhabdomyosarcoma, Raynaud phenomenon, Melanocytic nevus, Unilateral renal hypopla...	ORPHA:2874
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac...	OMIM:232300
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Renal angiomyolipoma, Chronic kidney disease, Sta...	ORPHA:805
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Conges...	OMIM:615895
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri...	ORPHA:90186
Kaposi Sarcoma	Venous insufficiency, Abnormality of the spleen, Lymphedema	ORPHA:33276
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Telangiectasia, Chordee, Hypoplastic nipples, Mic...	OMIM:300519
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal ...	OMIM:617913
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Hepatom...	ORPHA:99827
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Proteinuria, Enlarged polycystic ovaries, Thrombocytopenia, Leukopeni...	ORPHA:2298
Bartsocas-Papas Syndrome	Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Sparse or absent eyelashes, Apl...	ORPHA:1234
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Biliary tract abnormality, Bile duct polyp	OMIM:175200
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of...	ORPHA:391428
Panhypophysitis	Normochromic anemia	ORPHA:95513
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples...	OMIM:103285
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Brittle hair, Diastasis recti, Cardiomegaly, Sparse eyebrow, ...	OMIM:252500
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Dilated cardiomyopathy, Leukopenia, Pallor, Thrombocytosis, Anemia	ORPHA:20
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Urinary incontinence, Cardiomegal...	OMIM:268800
Macs Syndrome	Sparse hair, Alopecia, Urethral stenosis, Sparse eyebrow	OMIM:613075
Rothmund-Thomson Syndrome Type 1	Calcinosis, Aplastic anemia, Alopecia totalis, Hyperpigmentation of the skin, Telangiectasia, Spa...	ORPHA:221008
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont...	ORPHA:35173
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Fanconi Anemia	Abnormality of skin pigmentation, Leukopenia, Atrial septal defect, Hypospadias, Abnormal cardiac...	ORPHA:84
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Myopat...	OMIM:619743
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Leuko...	ORPHA:764
Erdheim-Chester Disease	Renal insufficiency, Abnormal pericardium morphology, Dysuria, Congestive heart failure, Abnormal...	ORPHA:35687
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Nephronophthisis	OMIM:602152
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Hyperpigmentation of the skin, Myocardial in...	ORPHA:96253
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Flexion contracture, Renal hypoplasia, Generalized hypopigmentation, Micr...	OMIM:619321
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Pituitary Apoplexy	Normochromic anemia	ORPHA:95613
Copper Deficiency, Familial Benign	Curly hair, Early balding, Anemia	OMIM:121270
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Renal neoplasm, Alopecia...	ORPHA:79474
Cantú Syndrome	Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster...	ORPHA:1517
Bardet-Biedl Syndrome 9	Renal insufficiency, Bone spicule pigmentation of the retina	OMIM:615986
Irida Syndrome	Pallor	ORPHA:209981
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Multiple mus...	ORPHA:391641
Joubert Syndrome 37	Sparse hair	OMIM:619185
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho...	OMIM:227646
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas...	OMIM:301074
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormality of skin pigmentation, Abnormal hair morphology	ORPHA:1979
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal...	ORPHA:90340
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Acute rhabdomyolysis	OMIM:268200
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no...	ORPHA:223
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Renal insufficiency, Glomerulonephritis, Abnormality of the kidney, ...	ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 ...	OMIM:615994
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys...	OMIM:150400
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy	ORPHA:98813
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Generalized hyperpigmentation, Abnormal eyelash morphology, Low ...	ORPHA:1340
Shigellosis	Abscess, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Rhabdomyolysis, Urethritis, Hypovo...	ORPHA:810
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma	OMIM:194072
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Asplenia, Situs inversus totalis, Anomalous ...	ORPHA:244
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Abnormal abdome...	ORPHA:97280
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertens...	ORPHA:2750
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Reduced hematocrit	ORPHA:79126
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	OMIM:171400
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Avian Influenza	Congestive heart failure, Rhabdomyolysis, Leukopenia, Lymphopenia, Acute kidney injury, Thrombocy...	ORPHA:454836
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Hyperaldosteronism, Familial, Type Iii	Hypertension, Polyuria, Hypercalciuria	OMIM:613677
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97282
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Hypopigmented skin patches, Abnormality of sk...	ORPHA:220402
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Abnormality of the kidney, Raynaud phen...	ORPHA:90289
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:90154
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno...	ORPHA:231625
Mucopolysaccharidosis Type 3	Hepatomegaly, Thick hair, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophr...	ORPHA:581
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Thin nail, Small nail	OMIM:242100
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Patent foramen ovale	OMIM:618821
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Orofaciodigital Syndrome I	Alopecia, Dry hair, Proteinuria, Abnormal heart morphology, Hypertension, Polycystic kidney dyspl...	OMIM:311200
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Meningococcal Meningitis	Shock, Renal insufficiency, Hypotension	ORPHA:33475
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry...	ORPHA:2309
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Myoglobinuria, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:157
Igg4-Related Kidney Disease	Pericarditis, Renal insufficiency, Proteinuria, Eosinophilia, Urinary bladder inflammation, Renal...	ORPHA:449395
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Alopecia, Pericarditis, Angina pectoris, Telang...	ORPHA:93672
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Sparse hair, Uric acid nephrolit...	OMIM:300661
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnor...	ORPHA:636
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Glycopepti...	OMIM:230000
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium wasting, Renal ...	OMIM:612780
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Micr...	OMIM:617159
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Mucopolysacchariduria, Abnormality of the nail	ORPHA:349
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Distal amyotrophy	ORPHA:412057
Von Hippel-Lindau Syndrome	Hypertension, Multiple renal cysts, Polycythemia, Renal cell carcinoma	OMIM:193300
Cockayne Syndrome	Abnormality of retinal pigmentation, Dry hair, Skeletal muscle atrophy, Hepatomegaly, Urinary inc...	ORPHA:191
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Alopecia, Recurrent urinary tract infections, Bicuspid aortic valve, Ventric...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Alopecia, Recurrent urinary tract infections, Bicuspid aortic valve, Ventric...	ORPHA:363958
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Hand-Foot-Genital Syndrome	Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Pyelonephritis, Small thena...	OMIM:140000
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Exercise-induced rhabdomyolysis, Chronic kidney disease, Acute kidney injury, Exercise-induced my...	ORPHA:284426
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Anemia	OMIM:620366
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Alopecia totalis, Hyperpigmentation of the skin, Sparse or absent ey...	ORPHA:221016
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Breast aplasia, Hyp...	ORPHA:90153
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency, Highly arched eyebrow	ORPHA:2318
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Unilateral renal agenesis, Flexion contracture, Abnormal cardiac septum morphology, Sma...	OMIM:308050
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Elevated hemoglobin A1c, Myocardial infarction	OMIM:618620
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial...	OMIM:259900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Multiple lentigines, Sparse hai...	OMIM:607721
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Distal Deletion 10Q	Scapular winging, Hypoplastic toenails, Widow's peak, Functional abnormality of the bladder, Vesi...	ORPHA:96148
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency, Highly arched eyebrow	ORPHA:220497
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Acromegaly	Generalized hyperpigmentation, Abnormal fingernail morphology, Dysuria, Synophrys, Wide penis, Lo...	ORPHA:963
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Adams-Oliver Syndrome 1	Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypertension, H...	OMIM:100300
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Horses...	ORPHA:140952
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Kikuchi-Fujimoto Disease	Hepatomegaly, Alopecia, Splenomegaly, Myocarditis, Vasculitis, Anemia, Leukopenia, Lymphocytosis,...	ORPHA:50918
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Hypovolemia, Stage 5 chronic kidney dis...	ORPHA:411634
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Abnormality of skin pigmentation, Cardiomyopathy, Atri...	ORPHA:53296
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Hypermelanotic macule, Hypopig...	ORPHA:910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Absent pubic hair, Hypertension, Absent axillary hair, Micropenis, Increased urinary...	ORPHA:90793
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Thoracic Outlet Syndrome	Varicose veins, Edema	ORPHA:97330
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Flexion contracture, Elbow flexion contrac...	OMIM:248370
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hypertension	OMIM:615954
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Retinal hemorrhage, Stage 5 ch...	OMIM:609049
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:35710
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic cardiomyopathy	OMIM:614052
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle ...	OMIM:619259
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,...	ORPHA:3260
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
Fumarase Deficiency	Polyhydramnios, Perimembranous ventricular septal defect, Pallor, Ascites, Polycythemia	OMIM:606812
Primary Unilateral Adrenal Hyperplasia	Hypertension, Palpitations, Epistaxis, Increased urinary potassium	ORPHA:231580
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Supern...	ORPHA:466791
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Williams-Beuren Syndrome	Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Nephrocalcinosis, Vesicour...	OMIM:194050
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair	OMIM:219150
Postinfectious Vasculitis	Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R...	ORPHA:48435
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai...	ORPHA:466677
Sheehan Syndrome	Normochromic anemia	ORPHA:91355
Thymic Carcinoma	Abnormal vena cava morphology, Palpebral edema, Edema	ORPHA:99868
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Atrial se...	OMIM:308205
Costello Syndrome	Deep-set nails, Curly hair, Atrial septal defect, Renal insufficiency, Hyperpigmentation of the s...	OMIM:218040
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Absent eyelashes, ...	OMIM:263650
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Au-Kline Syndrome	Supernumerary nipple, Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesic...	OMIM:616580
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Renal insufficiency, Glomerulopathy, Proteinuria, Thrombocytopenia, Proximal r...	ORPHA:534
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Sy...	ORPHA:2463
Marshall-Smith Syndrome	Atrial septal defect, Brittle hair, Ventricular septal defect, Highly arched eyebrow, Dysplastic ...	OMIM:602535
Autosomal Recessive Robinow Syndrome	Alopecia, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology, Ca...	ORPHA:1507
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal corti...	OMIM:130650
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n...	OMIM:222470
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Abnormal ...	ORPHA:740
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi...	OMIM:105210
Classic Homocystinuria	Gastrointestinal hemorrhage, Sparse scalp hair, Abnormality of retinal pigmentation, Hepatomegaly...	ORPHA:394
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema	OMIM:615934
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Predominantly lower limb lymphedema	ORPHA:33001
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow	OMIM:613026
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Distal Deletion 19P	Alopecia, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia, Thick eye...	ORPHA:96129
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve	OMIM:617168
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Palpitations, Hypertro...	OMIM:618250
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Cerebral ischemia,...	ORPHA:494424
Multiple Myeloma	Splenomegaly, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute kidney injury, A...	ORPHA:29073
Yellow Fever	Shock, Renal insufficiency, Neutrophilia, Anuria, Supraventricular arrhythmia, Hematemesis, Leuko...	ORPHA:99829
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Alopecia	ORPHA:453533
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Xfe Progeroid Syndrome	Hypertension, Renal insufficiency, Proteinuria	OMIM:610965
Somatomammotropinoma	Generalized hyperpigmentation, Abnormal fingernail morphology, Dysuria, Synophrys, Hypertension, ...	ORPHA:314769
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Hypomagnesemia 2, Renal	Renal magnesium wasting, Renal insufficiency, Hypocalciuria	OMIM:154020
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Hyperaldosteronism, Familial, Type I	Hypertension, Abnormality of the urinary system	OMIM:103900
Tay-Sachs Disease	Pallor	OMIM:272800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Bl...	OMIM:614653
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hype...	OMIM:614527
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hepatomegaly	OMIM:615238
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Multiple...	OMIM:115150
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine	OMIM:215600
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmonary valve mo...	ORPHA:217085
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Anemia	ORPHA:139411
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Synophrys, Bilateral wrist flexion contracture, Congenital contra...	ORPHA:97297
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair	OMIM:614099
Adrenomyeloneuropathy	Urinary incontinence, Frontal balding, Fine hair, Abnormality of skin pigmentation, Urinary urgen...	ORPHA:139399
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia...	ORPHA:99228
Monosomy X	Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Bicuspid aortic valve, Myocardia...	ORPHA:881
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Frontal balding, Hypertension, Hirsutism	ORPHA:786
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Small hypothenar eminence, Sparse facial hair, Thenar musc...	ORPHA:2232
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Hip contracture, Atrial septal defect, Sparse eyelashes, Shoulder flexion cont...	OMIM:210710
Ring Chromosome 13 Syndrome	Alopecia, Hypospadias, Abnormality of skin pigmentation, Urogenital sinus anomaly, Micropenis, Ca...	ORPHA:96176
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmonary valve mo...	ORPHA:217093
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter...	ORPHA:116
Marburg Hemorrhagic Fever	Shock, Lymphopenia, Reticulocytosis, Tachycardia, Pericarditis, Renal insufficiency, Neutrophilia...	ORPHA:99826
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Telangiectasia, Hypertension, Spa...	OMIM:234100
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria	OMIM:612469
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Neutropenia, ...	ORPHA:163956
Addison Disease	Normocytic anemia, Thiamine-responsive megaloblastic anemia, Thymoma	ORPHA:85138
Biotinidase Deficiency	Alopecia, Organic aciduria, Limb muscle weakness	ORPHA:79241
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of...	ORPHA:37
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Arteriovenous malformation	ORPHA:137608
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Abnormality of the nail, Melanocytic nevus	ORPHA:1555
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V...	ORPHA:536532
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne...	OMIM:265380
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Supernumerary nipple, Renal cortical cysts, Hyperechogenic kidn...	ORPHA:397715
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat...	ORPHA:920
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Hypospadias, Abnormality of neutrophils, Hypop...	ORPHA:235
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Scapular winging, Mitral valve prolapse, Melanocytic nevus	OMIM:616914
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Hypoplastic toen...	ORPHA:904
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Foix-Alajouanine Syndrome	Arteriovenous fistula, Myelopathy, Cervical myelopathy, Venous malformation	ORPHA:79093
Cranioectodermal Dysplasia 1	Hepatomegaly, Slow-growing hair, Short nail, Thin nail, Bicuspid aortic valve, Renal magnesium wa...	OMIM:218330
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Growth delay, Pallor, Anemia	ORPHA:667
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Flexion contracture, Elbow f...	ORPHA:95699
Cohen Syndrome	Abnormality of retinal pigmentation, Ventricular septal defect, Thick hair, Abnormal eyelash morp...	ORPHA:193
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ...	OMIM:615485
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Arthrogryposis multiplex co...	OMIM:608013
Arterial Tortuosity Syndrome	Aortic regurgitation, Ventricular hypertrophy, Congenital diaphragmatic hernia, Flexion contractu...	OMIM:208050
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Yunis-Varon Syndrome	Sparse scalp hair, Sparse eyelashes, Ventricular septal defect, Hypospadias, Cardiomegaly, Sparse...	ORPHA:3472
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow	OMIM:302960
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Abnormal left ventricular function, Leukopenia, Aminoaciduria, Lymphocyto...	OMIM:619991
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence	ORPHA:75567
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Varicose veins, Pulmonic stenosis, Aortic dissection, Polymicrogyria, Vascular dilatation	OMIM:618343
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Renal insufficiency, G...	ORPHA:117
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Linear Nevus Sebaceus Syndrome	Alopecia, Irregular hyperpigmentation, Melanocytic nevus	ORPHA:2612
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Nelson Syndrome	Increased urinary cortisol level, Generalized hyperpigmentation, Quadriceps muscle atrophy, Intra...	ORPHA:199244
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe...	ORPHA:2912
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation, Lymphedema	OMIM:613089
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias, Small nail, Hypoplastic fingernail	OMIM:123790
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Stage 5 chronic kidney dise...	OMIM:249100
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Congenital Disorder Of Glycosylation, Type Iia	Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism	OMIM:212066
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension	OMIM:610489
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly	OMIM:620306
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair, Forehead hyperpigmentation	OMIM:607812
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Sparse hair, Abnormal T-wave, Micropenis	OMIM:241080
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Contractures of the large joints, Chordee, Renal dysplasia	ORPHA:96179
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Skeletal muscle hypertrophy, Hypertension, Increased intramuscular fat, Hirsutism	OMIM:151660
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf...	ORPHA:125
Weaver Syndrome	Deep-set nails, Thin nail, Melanocytic nevus, Fine hair, Sparse hair	OMIM:277590
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Neurofibromatosis, Type I	Inguinal freckling, Rhabdomyosarcoma, Axillary freckling, Hypertension, Renal artery stenosis, Mu...	OMIM:162200
Ectopic Aldosterone-Producing Tumor	Hypertension, Epistaxis, Renal cortical adenoma	ORPHA:231632
Myhre Syndrome	Atrial septal defect, Ventricular septal defect, Pericardial effusion, Generalized muscle hypertr...	OMIM:139210
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab...	OMIM:600376
Cholera	Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Hypotension, Acute kidney injury,...	ORPHA:173
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure...	ORPHA:2108
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Cafe-au-lait spot	OMIM:614114
Listeriosis	Brain abscess, Pericarditis, Liver abscess, Abscess, Congestive heart failure, Myocarditis, Rhabd...	ORPHA:533
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Skeletal muscle hypertrophy, Hypertension, Ab...	ORPHA:2588
Chronic Graft Versus Host Disease	Alopecia, Pancytopenia, Phimosis, Urinary bladder inflammation, Flexion contracture, Abnormality ...	ORPHA:99921
Helix Syndrome	Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria	OMIM:617671
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi...	OMIM:611962
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Hypertension, Urinary bladder sphincter dysfunction, Hypotension	ORPHA:93256
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne...	OMIM:208500
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Facial hypotonia, Flexion contracture, Lower limb hypertonia, Patch...	OMIM:300534
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Pallor, Dehydration	ORPHA:2131
Prader-Willi Syndrome	Hypertension, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha...	ORPHA:2710
3Q29 Microdeletion Syndrome	Hypospadias, Horseshoe kidney, Abnormality of skin pigmentation, Subvalvular aortic stenosis, Pul...	ORPHA:65286
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Ventricular septa...	OMIM:270400
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Cafe-...	OMIM:601358
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair	ORPHA:357074
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Growth delay, Pallor, Tetralogy of Fallot	ORPHA:1199
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Orthostatic hypotension, Polyuria, Hypertension, Pigmentary retinopathy, Spars...	OMIM:606721
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Primary Sclerosing Cholangitis	Hepatomegaly, Renal insufficiency, Abnormal eosinophil morphology, Spider hemangioma, Portal hype...	ORPHA:171
Acute Transverse Myelitis	Orthostatic hypotension, Abscess, Subarachnoid hemorrhage, Urinary incontinence, Upper limb muscl...	ORPHA:139417
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease, Abnormality of hair texture	ORPHA:2752
Trichotillomania	Alopecia	OMIM:613229
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Hydroureter, Camptodactyly of finger, Abnormality of t...	ORPHA:2273
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Glass Syndrome	Sparse hair, Long eyelashes, Nail dysplasia	OMIM:612313
Coccidioidomycosis	Pericarditis, Renal insufficiency, Abscess, Eosinophilia, Abnormality of the kidney, Abnormality ...	ORPHA:228123
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Ventricular septal defect, Abnormal pulmonary v...	ORPHA:567
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ...	OMIM:617022
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Hyperpigmentation of the skin, Dysuria, Trichiasis, Moderate albuminur...	ORPHA:95455
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Mitral valve prolapse	ORPHA:449291
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulm...	ORPHA:580
Zygomycosis	Gastrointestinal hemorrhage, Brain abscess, Pericarditis, Renal insufficiency, Epistaxis, Hematem...	ORPHA:73263
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Cranioectodermal Dysplasia 4	Stage 5 chronic kidney disease, Onychogryposis	OMIM:614378
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot	OMIM:613563
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension, Long penis, Hyperpigmentation of the skin	OMIM:202010
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca...	ORPHA:99880
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Telangiectasia of the skin, Camptodactyly of finger, Abnormality o...	ORPHA:2135
Abetalipoproteinemia	Reticulocytosis, Abnormality of retinal pigmentation, Hepatomegaly, Acanthocytosis, Cardiomegaly,...	ORPHA:14
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
African Trypanosomiasis	Abnormal EKG, Alopecia, Pericarditis, Hepatomegaly, Urinary incontinence, Renal insufficiency, My...	ORPHA:3385
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency	OMIM:226980
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Skeletal muscle atrophy	OMIM:219080
Alexander Disease	Facial palsy, Sudden cardiac death, Hypertension, Hypotension, Hyperpigmented nevi	ORPHA:58
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Down Syndrome	Sparse hair	ORPHA:870
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Alopecia, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, C...	ORPHA:3107
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca...	ORPHA:143
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi...	ORPHA:284984
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Sparse scalp hair, Hyperpigmentation of the skin, Myocardial in...	ORPHA:99889
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephrolithiasis, Hyp...	ORPHA:653
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Hypermelanotic macule, Rhabdomyosarcoma, Renovascular hypertension, A...	ORPHA:97685
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failu...	ORPHA:91347
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Familial Bicuspid Aortic Valve	Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi...	ORPHA:402075
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:761
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail	OMIM:614813
Menkes Disease	Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid artery morphol...	ORPHA:565
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal eyelash morphology, Tricuspid valve prolapse, Pulmonary arterial hypertension,...	ORPHA:2396
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, Macroglossia, Art...	OMIM:618143
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Chronic kidney disease	ORPHA:469
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Rhabdomyosarcoma, Multiple cafe-au-lait spots...	ORPHA:1052
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Highly arched eyebrow, Unilateral renal agenesis, Stage ...	OMIM:620305
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Venous malformation, Spinal dysraphism	OMIM:612918
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition	OMIM:125310
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Loss of...	ORPHA:2636
Leprosy	Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epistaxis, Abnormality of the spleen, Loss of ...	ORPHA:548
Clapo Syndrome	Varicose veins, Venous malformation, Lymphedema	ORPHA:168984
White-Sutton Syndrome	Sparse hair	OMIM:616364
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Atrial septal defect, Vesicovaginal fistula, Th...	OMIM:300896
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Bone spicule pigmentation of the retina, Renal Fanconi syndrome, Stage 5 chronic kidney disease, ...	OMIM:268315
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Hypopigme...	ORPHA:821
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Rhabdomyolysis, Oliguria, ST segment depression, Hypo...	ORPHA:466650
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar...	ORPHA:477
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Rhabdomy...	ORPHA:509
Behcet Syndrome	Raynaud phenomenon, Patchy alopecia, Decreased level of D-mannose in urine	OMIM:109650
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri...	OMIM:619534
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Renal angiomyolipoma, Chylop...	ORPHA:538
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Hypospadias, Absent eyelashes, Spa...	OMIM:264090
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Curly ...	ORPHA:199
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Pericardial ...	ORPHA:51608
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sparse hair, Synophrys, Toenail dysplasia, Hirsutism	OMIM:300966
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular s...	ORPHA:273
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Torticollis, Progressive flexion contractures	ORPHA:98808
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair	OMIM:616541
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Renal steatos...	ORPHA:391665
Sympathetic Ophthalmia	Vitiligo, Alopecia, Retinal hemorrhage, Poliosis	ORPHA:79098
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Xq21 Microdeletion Syndrome	Upper limb muscle weakness, Hypertension, Renal artery stenosis, Abnormality of the Achilles tendon	ORPHA:1435
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Tricuspid regurgitation, Hypospad...	ORPHA:2556
Vascular Ehlers-Danlos Syndrome	Alopecia, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology,...	ORPHA:286
Proteus-Like Syndrome	Venous insufficiency, Splenomegaly, Thymus hyperplasia	ORPHA:2969
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Stuve-Wiedemann Syndrome 1	Sparse hair, Blotching pigmentation of the skin	OMIM:601559
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous...	OMIM:610655
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, ...	ORPHA:51
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension, Calcinosis, Low urinary cyclic AMP response to PTH administr...	ORPHA:79443
Viss Syndrome	Sparse scalp hair, Alopecia, Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlar...	OMIM:619472
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Urethral stricture, Nail dystrophy, Alopecia universalis	ORPHA:158668
Woodhouse-Sakati Syndrome	Abnormal T-wave, Alopecia, Aplasia/Hypoplasia of the eyebrow, Micropenis	ORPHA:3464
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Splenomegaly, Aortic valve c...	ORPHA:2072
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Kindler Epidermolysis Bullosa	Urethral stricture, Camptodactyly of finger, Phimosis, Flexion contracture, Neoplasm of the ureth...	ORPHA:2908
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Linear hyperpigmentation, Brittle hair, Diastasis recti, Super...	OMIM:305600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Liposarcoma	Varicose veins	ORPHA:69078
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Sparse eyebrow	OMIM:244450
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Splen...	OMIM:188400
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Cyanosis, Transient ischemic attack, Cerebral arteriovenous m...	OMIM:187300
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Coronary artery stenosis, Myocardial infarction	OMIM:615812
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia	ORPHA:432
Multisystemic Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Pulmonary arterial hypertension	OMIM:613834
Apert Syndrome	Hypertension	ORPHA:87
Low Phospholipid-Associated Cholelithiasis	Hypertension, Liver abscess	ORPHA:69663
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Varicose Veins	Varicose veins	OMIM:192200
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Thin nail	OMIM:617799
Uremic Pruritus	Chronic kidney disease, Stage 5 chronic kidney disease	ORPHA:94059
Familial Osteodysplasia, Anderson Type	Hypertension, Thick eyebrow	ORPHA:2769
Premature Aging Syndrome, Penttinen Type	Sparse hair	OMIM:601812
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve prolapse, Varicose veins	OMIM:617107
De Barsy Syndrome	Sparse hair	ORPHA:2962
Calciphylaxis	Stage 5 chronic kidney disease	ORPHA:280062
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Nephrolithiasis, Hypercalciuria, Large cafe-au-lait macules w...	ORPHA:652
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Micropenis, Hepatomegaly, Portal hyp...	ORPHA:64
Thymic Neuroendocrine Tumor	Abnormal vena cava morphology, Prominent veins on trunk	ORPHA:97289
Hereditary Sensory And Autonomic Neuropathy Type 4	Abscess, Chronic kidney disease, Anemia, Aplasia of the sweat glands, Syncope, Tooth abscess, Ort...	ORPHA:642
Cartilage-Hair Hypoplasia	Sparse hair, Abnormality of retinal pigmentation, Sparse eyebrow	ORPHA:175
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Bicarbonaturia, Proximal renal t...	OMIM:309000
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Abnormality of the kidney	ORPHA:449432
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Renal cyst, Hypopig...	OMIM:601803
Carney Complex	Congestive heart failure, Cardiac myxoma, Hypertension, Multiple lentigines, Multiple cafe-au-lai...	ORPHA:1359
Ring Chromosome 7 Syndrome	Hypospadias, Highly arched eyebrow, Situs inversus totalis, Low anterior hairline, Heart murmur, ...	ORPHA:1449
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth...	ORPHA:857
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow	OMIM:280000
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Abnormal cerebral vascular morphology	ORPHA:276280
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Blau Syndrome	Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe	OMIM:186580
Autosomal Dominant Spastic Paraplegia Type 10	Varicose veins	ORPHA:100991
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ...	OMIM:619841
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Sparse eyebrow, Nail dystrophy, Hypoplastic nipples, Small nail, Sparse hair	OMIM:620186
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Umbilical hernia, Ac...	ORPHA:285
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair	OMIM:151050
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, Acute kidney injury, Th...	ORPHA:90062
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplastic fingernail	ORPHA:96191
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Varicose veins	OMIM:314300
Ehlers-Danlos Syndrome, Vascular Type	Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation of the cerebral a...	OMIM:130050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Roberts Syndrome	Sparse hair	ORPHA:3103
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypospadias, Vesicovaginal fistula, Horseshoe kidney, Hypertension, Chordee, Camptodactyly, Micro...	OMIM:201750
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta...	ORPHA:2044
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, O...	OMIM:182250
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism	OMIM:617157
Occipital Horn Syndrome	Venous insufficiency, Vascular dilatation	ORPHA:198
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Sparse hair, Alopecia of scalp, Fragile nails	OMIM:150230
Microphthalmia With Limb Anomalies	Venous insufficiency	ORPHA:1106
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Synophrys, Pigmentary retinopathy, Sparse hair, Hirsutism, Aplasia/Hypoplasia ...	ORPHA:3455
Wrinkly Skin Syndrome	Sparse hair, Short nail, Fragile nails	OMIM:278250
Branchiooculofacial Syndrome	Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h...	OMIM:113620
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Wrinkly Skin Syndrome	Sparse hair	ORPHA:2834
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S...	OMIM:259050
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cafe-au-lait spot	OMIM:268300
Norrie Disease	Venous insufficiency	ORPHA:649
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065

Histopathology

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

There is no histopathology data for Tal1

IMPC related publications

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

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

Order Mouse and ES Cells

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us