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Gene: Tmprss6 MGI:1919003

Gene Summary

Name:

transmembrane serine protease 6

Synonyms:

1300008A22Rik, matriptase-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased Ly6C-positive mature NK cell number	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.61×10^-06
increased effector memory CD8-positive, alpha-beta T cell number	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.39×10^-10
abnormal skin morphology	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased hemoglobin content	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal coat appearance	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.66×10^-09
immune system phenotype	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.68×10^-07
increased heart weight	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.95×10^-05
decreased exploration in new environment	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.72×10^-08
decreased hematocrit	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.41×10^-08
increased fasting circulating glucose level	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.69×10^-08
increased CD11b-high dendritic cell number	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.97×10^-05
decreased CD8-positive, alpha-beta T cell number	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.88×10^-06
decreased prepulse inhibition	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.04×10^-09
decreased mean corpuscular hemoglobin	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased mean corpuscular hemoglobin concentration	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.72×10^-06
increased circulating calcium level	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.82×10^-06
abnormal coat/ hair morphology	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.96×10^-08
abnormal coat/hair pigmentation	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.66×10^-09
decreased NK cell number	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.24×10^-06
short tibia	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.11×10^-37
decreased locomotor activity	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.15×10^-05
decreased mean corpuscular volume	Tmprss6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.45×10^-37

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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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Gross Pathology and Tissue Collection

Images

4 Images

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Immunophenotyping

Panel B FCS file(s)

12 Images

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Immunophenotyping

Panel A FCS file(s)

12 Images

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Human diseases caused by Tmprss6 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 Tmprss6 (2 diseases)
Human diseases predicted to be associated with Tmprss6 (1601 diseases)

The table below shows human diseases associated to Tmprss6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Iron-Refractory Iron Deficiency Anemia		Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Irida Syndrome		Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981

The table below shows human diseases predicted to be associated to Tmprss6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri...	ORPHA:766
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
L-Ferritin Deficiency	Alopecia, Decreased circulating ferritin concentration	OMIM:615604
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevated hepatic...	ORPHA:254704
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit...	ORPHA:848
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Zinc Deficiency, Transient Neonatal	Alopecia, Decreased serum zinc	OMIM:608118
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp...	OMIM:618805
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho...	ORPHA:79278
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b...	ORPHA:202
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Atransferrinemia	Abnormality of the liver, Atransferrinemia, Hypochromic anemia	OMIM:209300
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Cortisone Reductase Deficiency 1	Alopecia, Infertility, Hirsutism, Oligomenorrhea	OMIM:604931
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym...	OMIM:619750
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ...	ORPHA:446
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal fingernail morpho...	ORPHA:75564
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Copper Deficiency, Familial Benign	Curly hair, Decreased circulating copper concentration, Early balding, Anemia	OMIM:121270
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot...	OMIM:300752
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr...	ORPHA:79230
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia	OMIM:604290
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc...	OMIM:600462
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Familial Benign Copper Deficiency	Early balding, Decreased circulating copper concentration, Anemia	ORPHA:1551
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Kerion Celsi	Alopecia	ORPHA:499
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:301082
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Beta-Thalassemia Major	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231214
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia	OMIM:229100
Aredyld	Generalized hypotrichosis	OMIM:207780
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Atrial septal defect, Anemia, Megaloblastic anemia	ORPHA:51208
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism	ORPHA:2574
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Hypophosphatasia	Bowing of the long bones, Hypercalcemia, Irritability, Abnormal metaphysis morphology, Anemia	ORPHA:436
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Progressive neurologic deterioration, Silver-gray hai...	OMIM:607624
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Srd5A3-Cdg	Abnormal hair morphology, Hypertrichosis, Elevated hepatic transaminase, Microcytic anemia	ORPHA:324737
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Fibrodysplasia Ossificans Progressiva	Alopecia, Anemia	ORPHA:337
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Micr...	OMIM:610198
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly	ORPHA:2123
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia	ORPHA:98791
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Hypertrichosis, Microcytic anemia	OMIM:612379
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Unilateral cryptorchidism, Persistence of hemoglobin F, Incr...	OMIM:300946
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Oliver-Mcfarlane Syndrome	Alopecia, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormo...	OMIM:275400
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Rhabdoid Tumor	Thrombocytopenia, Irritability, Hypercalcemia, Anemia	ORPHA:69077
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas...	OMIM:274150
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anem...	ORPHA:54028
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatitis, ...	OMIM:614602
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Nail dystrophy, Spa...	OMIM:618625
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Lo...	ORPHA:3363
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Acatalasemia	Microcytic anemia	ORPHA:926
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Microcytic anemia	OMIM:612073
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva...	OMIM:251900
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplas...	ORPHA:2930
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Short Stature With Microcephaly And Distinctive Facies	Sparse scalp hair, Severe short stature, Sparse eyebrow, Anisopoikilocytosis, Anemia	OMIM:615789
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst...	OMIM:236270
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Hypoalbuminemia, Decrease...	OMIM:241600
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia	OMIM:619423
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Pallor, Albinism	ORPHA:2786
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Hyperhomocystinemia, Megaloblastic anemia	OMIM:250940
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Hyperpigmentation of the skin, Hepatomegaly	OMIM:609981
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia	OMIM:616457
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circ...	OMIM:235200
Trichohepatoenteric Syndrome 1	Curly hair, Hepatomegaly, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair...	OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Klippel-Trénaunay Syndrome	Hepatomegaly, Ascites, Microcytic anemia	ORPHA:90308
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Irritability, Short...	OMIM:241500
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypogonadism, Sparse body hair	ORPHA:85274
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis, Anemia	OMIM:617408
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Short stature, Unilateral cry...	ORPHA:261529
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Redu...	OMIM:105600
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Nephronophthisis	Anemia	ORPHA:655
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Fair hair, Albinism...	OMIM:608233
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Microcytic anemia, Hypertrichosis, H...	ORPHA:168569
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia, Anemia	OMIM:619147
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Hawkinsinuria	Sparse hair, Abnormal circulating tyrosine concentration, Fine hair	ORPHA:2118
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Nail dysplasia, Nail dystrophy, Anemia	OMIM:175500
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi...	OMIM:619632
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Microcytic anemia, Low posteri...	ORPHA:2959
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, N...	ORPHA:66634
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly	OMIM:613561
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Erythrokeratodermia Variabilis	Alopecia, Short stature, Abnormal hair morphology, Erythema, Dry skin, Abnormality of the nail, A...	ORPHA:317
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
X-Linked Agammaglobulinemia	Alopecia, Abnormality of the tonsils, Abnormality of the lymphatic system, Hepatitis, Anemia, Hyp...	ORPHA:47
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Abnormalit...	ORPHA:2584
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Hepatoblastoma, Increased mean platelet vol...	ORPHA:84064
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Hyperuricemia, Anemia	ORPHA:371
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Aplasia/Hypopl...	ORPHA:39041
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, Sp...	ORPHA:465508
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Scarring al...	ORPHA:79277
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4...	ORPHA:443811
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia...	ORPHA:2850
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Talipes equinovarus, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess	OMIM:619752
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikil...	OMIM:607330
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hirsutism, Highly arched eyebrow, Microcytic anemia	ORPHA:293967
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Hypercalcemia, Hy...	ORPHA:199299
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair, Anemia	ORPHA:79402
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Nail pits, Hepatic necrosis, Anemia, Leukopenia, Prematur...	OMIM:127550
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-p...	OMIM:304790
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair...	OMIM:224750
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor ...	ORPHA:276
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Reduced natural killer cell c...	OMIM:620133
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Elevated circulating creatine kinase concentration, Alopecia totalis, ...	OMIM:618775
Hamamy Syndrome	Hypoparathyroidism, Atrial septal defect, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cr...	OMIM:611174
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Ataxia, Clinodactyly of the 3rd finger, Abnormal T cell subset distribution, Low posterior hairli...	ORPHA:221139
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Hypogonadism, Sparse body hair	ORPHA:261483
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Anemia, Hypophosphatemia, Metaphyseal irre...	OMIM:239200
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Birk-Aharoni Syndrome	Cryptorchidism, Macrocytic anemia, Muscular ventricular septal defect, Thick eyebrow	OMIM:620071
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Hypoa...	ORPHA:507
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Ataxia, Premature graying of hair, Gait disturbance,...	ORPHA:100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Trichotillomania	Alopecia	OMIM:613229
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Genu valgum, Abnormal epiphysis morphology, Hypocalcemia, Abnormal...	ORPHA:53
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Low anterior hairline, Low posterior hairline, Hypocal...	OMIM:618440
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:14
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Anemia	ORPHA:28
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:611926
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Abnormality of the frontal hairline, Short 5th finger, Hypo...	ORPHA:557003
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia, Cognitive impairment, Menta...	ORPHA:217260
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Satoyoshi Syndrome	Alopecia, Short stature, Hypoplasia of the uterus, Mildly elevated creatine kinase, Alopecia univ...	OMIM:600705
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Barth Syndrome	Cyclic neutropenia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Endocardial fibroelast...	OMIM:302060
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Cirrhosis, Increased se...	ORPHA:101028
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated he...	OMIM:619991
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly	ORPHA:172
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Micrognathia	OMIM:242860
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Lathosterolosis	Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Intrauterine growth retar...	ORPHA:46059
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Progressive psychomotor deterioration, Increased blood urea nitrogen, Episodic hem...	ORPHA:251004
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Nail dysplasia, Decreased ci...	ORPHA:89842
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver...	ORPHA:2169
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Increased i...	OMIM:255125
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu...	OMIM:300972
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Low posterior hairline, A...	ORPHA:2183
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Alopecia, Increased mean platelet volume	OMIM:617443
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Synophrys, Pa...	ORPHA:476126
Lesch-Nyhan Syndrome	Hyperuricemia, Anemia	ORPHA:510
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair, Hypogonadism	OMIM:618681
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:435934
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypoglycemia, Hypercalcemia, Sparse axillary hair, Hyperkalemia,...	ORPHA:95409
Leukocyte Adhesion Deficiency Type Ii	Broad eyebrow, Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Low anterior hairline...	ORPHA:99843
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Thrombocytopenia	ORPHA:79242
Intermediate Osteopetrosis	Hepatosplenomegaly, Anemia, Hypocalcemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia	ORPHA:210110
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail	ORPHA:621
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Wolcott-Rallison Syndrome	Acute hepatic failure, Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper...	ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Hypoplasia of the radius, Short...	OMIM:607143
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Sheehan Syndrome	Hyponatremia, Dyspareunia, Decreased female libido, Sparse axillary hair, Reduced circulating pro...	ORPHA:91355
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cr...	ORPHA:3051
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Severe postnatal growth retardation, Alopecia, Severe short stature	OMIM:203550
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct...	ORPHA:356961
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger, Broad met...	ORPHA:508533
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphysea...	OMIM:156400
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Sézary Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal lymphocyte morpho...	ORPHA:3162
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia	OMIM:603278
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Anemia	OMIM:244460
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly	ORPHA:313855
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipide...	ORPHA:79477
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Prolactinoma	Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p...	ORPHA:2965
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Growth delay, Dry skin, Sparse body hair	ORPHA:177
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Satoyoshi Syndrome	Short stature, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hy...	ORPHA:3130
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal foot morphology...	OMIM:269920
Infantile Myofibromatosis	Abnormal hair morphology, Abnormal metaphysis morphology, Irregular hyperpigmentation, Hypercalcemia	ORPHA:2591
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Alopecia, Absent eyebrow, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelash...	OMIM:263700
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure	ORPHA:774
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote...	ORPHA:54251
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Short stature, Aplastic anemia, Cryptorchidism, Fine hair, Premature gray...	OMIM:613990
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern, Abnormality of the pancreas, Hypoproteinemia, Anemia, Exocrine p...	ORPHA:2315
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Hypogonadis...	ORPHA:2269
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Short stature, External genital hypoplasia, Cryptorch...	ORPHA:1867
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Monosomy 22	Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Sparse hair	ORPHA:96123
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas...	OMIM:610377
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Macrocytic anemia, Granulocytopenia, Low posterior hairline	OMIM:606164
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	ORPHA:158048
Menkes Disease	Alopecia, Brittle hair, Short stature, Decreased circulating ceruloplasmin concentration, Cutis l...	OMIM:309400
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Addison Disease	Normocytic anemia, Hyponatremia, Hypoglycemia, Hypercalcemia, Sparse axillary hair, Thiamine-resp...	ORPHA:85138
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Adenohypophysitis	Hyponatremia, Decreased female libido, Reduced circulating prolactin concentration, Adrenocortico...	ORPHA:95512
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin	ORPHA:90037
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Gonadoblastoma	Hirsutism, Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, ...	ORPHA:206484
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased p...	ORPHA:90362
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ...	OMIM:250250
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exo...	OMIM:269200
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Androgen Insensitivity Syndrome	Sparse pubic hair, Primary amenorrhea, Absent facial hair, Sparse axillary hair	OMIM:300068
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Adamantinoma	Hypercalcemia	ORPHA:55881
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Constipation, Frontal upsweep of hair, Decreased serum iron	ORPHA:391372
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, H...	OMIM:259700
Abcd Syndrome	White eyelashes, White eyebrow, Albinism, Neonatal death, Polycythemia	OMIM:600501
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Perianal erythema, Splenomegaly, Paronychia, Dry skin, Decreased serum zinc, Hypog...	OMIM:201100
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Neutropenia, S...	ORPHA:175
Monosomy 13Q34	Pes planus, Hypercalcemia, Micrognathia, Insulin resistance, Postaxial hand polydactyly, Postaxia...	ORPHA:96168
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Iron deficiency anemia, Hypocalcemia,...	OMIM:212750
Diabetes Mellitus, Permanent Neonatal, 4	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:618858
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Deep-set nails, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equi...	OMIM:201170
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Hypercalcemia, Metaphyseal dysplasia	OMIM:614732
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair	ORPHA:1660
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Diabetes mellitus, Abnormal pelvis b...	ORPHA:249
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Panhypophysitis	Hyponatremia, Decreased female libido, Reduced circulating prolactin concentration, Adrenocortico...	ORPHA:95513
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr...	OMIM:153670
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Short stature, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the u...	ORPHA:247768
Hypercalcemia, Infantile, 1	Lethargy, Hypercalcemia	OMIM:143880
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Alopecia, Streak ovar...	ORPHA:2232
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema,...	OMIM:308300
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos...	ORPHA:98907
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Premature pubarche, Short stature, Clitoral hypertrophy, Premature thelarche, Isosexual...	ORPHA:90795
Optic Atrophy 1	Pallor	OMIM:165500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia...	ORPHA:37042
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Nail dyst...	OMIM:618165
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Knee flexion contracture, Femoral bowing, Blotching pigmentation of ...	OMIM:601559
Colchicine Poisoning	Hyponatremia, Alopecia, Leukocytosis, Diarrhea, Abnormal blood ion concentration, Hypophosphatemi...	ORPHA:31824
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Hypertriglyceridemia, Sp...	OMIM:603553
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, Tripha...	ORPHA:124
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Anemia	OMIM:613092
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Hyperhomocystinemia, An...	OMIM:277380
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Short stature, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Alopecia, Nail dystrophy, Anemia	OMIM:226600
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Ataxia, Abnorm...	OMIM:214500
Vitamin D-Dependent Rickets, Type 3	Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ...	OMIM:619073
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, N...	OMIM:234050
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Diabetes Mellitus, Transient Neonatal, 3	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:610582
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Areflexia of lower...	OMIM:615883
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect	OMIM:223350
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Myopathy, Mitochondrial, And Ataxia	Short stature, Elevated circulating creatine kinase concentration, Thick hair, Primary amenorrhea...	OMIM:617675
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Testicular atrophy, Thrombocytopenia	OMIM:222300
Tufted Angioma	Petechiae, Thrombocytopenia, Hypertrichosis, Anemia, Purpura	ORPHA:1063
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Severe short stature, Rhizomelia, Elevated circulating phytanic acid concentration	OMIM:215100
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Pallor, Hyperuricemia, Hyperammonemia	OMIM:246450
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase...	ORPHA:99826
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism	OMIM:273390
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys...	ORPHA:811
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism	OMIM:614072
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Diabetes Mellitus, Permanent Neonatal, 1	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:606176
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor, Increased total bilirubin	ORPHA:90036
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,...	OMIM:620306
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Thrombocytopenia	OMIM:253270
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Femoral bowing...	OMIM:602080
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop...	ORPHA:33445
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Hepatomegaly	OMIM:607906
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Mixed Connective Tissue Disease	Hemolytic anemia, Alopecia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypogonadism	ORPHA:3143
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Thromboc...	ORPHA:3322
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Maturity-Onset Diabetes Of The Young, Type 13	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:616329
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Exocrine pancreatic insufficiency	OMIM:609812
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, High nonceruloplasmin-bound serum...	ORPHA:457351
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia	OMIM:611489
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Severe short stature, Hypospadias, Growth delay, Thin ey...	ORPHA:3242
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Scarring alopecia of scalp, Nail dystrophy, Nail dysplasia, Anemia	OMIM:226670
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcar...	ORPHA:79284
Adams-Oliver Syndrome	Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, ...	ORPHA:974
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Growt...	OMIM:608885
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy, Anemia	OMIM:620040
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Gand Syndrome	Sparse hair	OMIM:615074
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Long fibula, Cognitive impairment, Abnormal metaphysis morphology, Lymphop...	ORPHA:935
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pedal edema, H...	ORPHA:247353
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu...	OMIM:612562
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Intrauterine growth retardation, Alopecia, Brittle hair, Short stature	ORPHA:50812
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy...	ORPHA:79445
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co...	ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo...	OMIM:618885
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Synophrys, Micronodular cirrhosis, Hepatosplenomegaly, ...	OMIM:606003
Oculocerebral Hypopigmentation Syndrome, Preus Type	White hair, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Filippi Syndrome	Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis	OMIM:272440
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circ...	ORPHA:50918
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Acanthoc...	ORPHA:96180
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernai...	ORPHA:1775
Pediatric Systemic Lupus Erythematosus	Alopecia, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, T...	ORPHA:93552
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Coarse hair, Poster...	ORPHA:75389
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Decreased circulating 12-HETE, Abnormal circulating eicosanoid concentrat...	OMIM:618372
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Glucagonoma	Hepatomegaly, Diabetes mellitus, Hypercalcemia, Acanthocytosis, Depression, Normochromic anemia	ORPHA:97280
2P21 Microdeletion Syndrome	Long eyelashes, Hypocalcemia, Hypoglycemia	ORPHA:163693
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, External genital hypoplasia, Abnormal hair morphology, Erythema, Growth dela...	OMIM:242100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine con...	ORPHA:247691
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Lymphopen...	OMIM:620365
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Metaphyseal sclerosis, M...	OMIM:260400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer ...	ORPHA:79124
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Alopecia of scalp, Nail dystrophy, Scaling skin, Dry skin	OMIM:618373
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal hair pattern, Highly arched eyebrow, Proximal placement of th...	ORPHA:261250
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypogonadism, Hypoplastic nipples, Small nail	OMIM:273400
Hyperinsulinism Due To Ucp2 Deficiency	Decreased circulating free fatty acid level, Pallor, Increased C-peptide level	ORPHA:276556
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Bone Marrow Failure Syndrome 4	Rhizomelia, Short stature, Anemia, Leukopenia, Dry skin, Thrombocytopenia	OMIM:618116
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, ...	ORPHA:227990
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Cryptorchidi...	ORPHA:251066
Tsh-Secreting Pituitary Adenoma	Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypokalem...	ORPHA:91347
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Secondary amenorrhea, Abn...	OMIM:228300
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Bathing Suit Ichthyosis	Alopecia, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair	ORPHA:100976
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Genu varum, Genu valgum, Gait disturbance, Hypocalcemia, Abnormal hip bone morphology, ...	ORPHA:93160
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Hypogonadism, Sparse body hair	OMIM:300869
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatitis, Atrophi...	OMIM:240300
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o...	ORPHA:93324
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In...	OMIM:110100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Decreased circulating free fatty acid level, Pallor, Increased C-peptide level	ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,...	OMIM:617591
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Hypogonadism, Sparse hair	ORPHA:2316
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea	ORPHA:2795
Mogs-Cdg	Hepatomegaly, Alopecia, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Left ...	ORPHA:79330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Vipoma	Hepatomegaly, Diabetes mellitus, Hypercalcemia, Normochromic anemia, Hypokalemia	ORPHA:97282
Fanconi Anemia, Complementation Group S	Short stature, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse...	OMIM:617883
Hyperinsulinism Due To Hnf1A Deficiency	Decreased circulating free fatty acid level, Pallor, Increased C-peptide level	ORPHA:324575
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cry...	OMIM:227650
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Chylomicron Retention Disease	Growth delay, Acanthocytosis, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:71
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, ...	ORPHA:227982
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ...	ORPHA:978
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation	ORPHA:228390
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Hypogonadism, Nail dystrophy, Spa...	ORPHA:3253
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia, Purpura	ORPHA:3204
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Small hand, Short foot, Abnormal ulnar metaphysis morphology, Hypopigme...	ORPHA:177910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Small nail, Atrial septal defect, Elev...	OMIM:300868
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Tarp Syndrome	Thick eyebrow, Extramedullary hematopoiesis, Abnormal hair pattern	ORPHA:2886
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Hypogonadism, Decreased fertility, Sparse body hair	ORPHA:2234
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Anemia, Hypoalbuminemia, Nail dystrophy, Onychogryposis	ORPHA:79396
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Hypospa...	OMIM:129400
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit...	ORPHA:314478
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis	OMIM:200150
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, ...	ORPHA:293978
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Atrial septal defect, Small proximal tibial ...	ORPHA:96334
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Diabetes mellitus, Short metatarsal, Advanced ossification of carpal bones, Blu...	OMIM:614613
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Bresek Syndrome	Alopecia, Cryptorchidism, Growth delay, Intrauterine growth retardation, Decreased testicular size	ORPHA:85284
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:619518
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Streak ovary, Decreased response to growth hormone sti...	ORPHA:3464
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni...	OMIM:105650
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Increased C-peptide level	ORPHA:276580
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Timothy Syndrome	Hypoglycemia, Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetral...	OMIM:601005
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth retardat...	ORPHA:453533
Pheochromocytoma--Islet Cell Tumor Syndrome	Axillary freckling, Cafe-au-lait spot, Hypercalcemia	OMIM:171420
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Conjugated hyperbiliru...	ORPHA:168577
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorchidism, Throm...	OMIM:600901
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Atrial septal defect, Ventricular ...	ORPHA:163979
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Hypergonadotropic hypogonadism, Secondary amenorrhea	OMIM:268020
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Petechiae, Hypospadias, Proportionate short stature, Cryptorchidism, Dry skin, Prem...	OMIM:620331
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Rothmund-Thomson Syndrome	Calcinosis, Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Neut...	ORPHA:2909
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature	ORPHA:88630
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Sarcoidosis	Hemolytic anemia, Alopecia, Hepatomegaly, Hyperpigmentation of the skin, Eosinophilia, Hypercalce...	ORPHA:797
Lesch-Nyhan Syndrome	Hyperuricemia, Megaloblastic anemia	OMIM:300322
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine growth retardation,...	OMIM:618947
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Fem...	OMIM:620076
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia	ORPHA:90033
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Elevated circulating creatine kinase concentration, Thick eyebrow	OMIM:611091
Adrenoleukodystrophy	Alopecia, Bowel incontinence, Impotence, Hypogonadism, Elevated circulating long chain fatty acid...	OMIM:300100
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy...	ORPHA:330015
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Squalene Synthase Deficiency	Bicuspid aortic valve, Micrognathia, Increased circulating farnesol concentration, 2-3 toe syndac...	OMIM:618156
Hereditary Orotic Aciduria	Splenomegaly, Abnormal toenail morphology, Anemia	ORPHA:30
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Micrognathia, Upper limb undergrowth, Abnormal heart morphol...	ORPHA:369837
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia, Intraut...	OMIM:617056
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De...	ORPHA:289157
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hypopigmentation of hair, Broad-based gait, Ataxia, Hypopigmentation of the...	ORPHA:411515
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop...	OMIM:618886
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Synophrys, Asymme...	OMIM:252920
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Ataxia, Progressive neurologic deterioration, Inability to walk, Abnorm...	ORPHA:70472
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac bones, Preaxi...	OMIM:616300
Biotinidase Deficiency	Splenomegaly, Alopecia, Hyperammonemia, Hepatomegaly	OMIM:253260
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Abnormality of hair texture, Megaloblastic anemia	ORPHA:79351
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Sepsis In Premature Infants	Petechiae, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis,...	ORPHA:90051
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis	OMIM:275630
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv...	OMIM:222700
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Hypochromic anemia	ORPHA:99147
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Coronary a...	OMIM:614294
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin, Eosinophilia	OMIM:618282
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S...	ORPHA:140936
Eisenmenger Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemi...	ORPHA:97214
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Conotruncal defect, H...	ORPHA:2306
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Erythema, Skin ulc...	ORPHA:37
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Mitochondrial Trifunctional Protein Deficiency	Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pigmentary retinopathy, Card...	ORPHA:746
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Rothmund-Thomson Syndrome Type 1	Calcinosis, Premature ovarian insufficiency, Short stature, Alopecia totalis, Aplastic anemia, Cr...	ORPHA:221008
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met...	ORPHA:2751
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Metaphyseal widening, Diaphyseal sclerosis, Long eyelashes, Hypocalcemia, Difficulty walk...	OMIM:618476
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypoca...	OMIM:612462
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail	ORPHA:257
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Postaxial hand polydactyly, ...	OMIM:235255
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Hypogonadism, Infertility, Oligomenorrhea, Dysphagia, Delayed menarche, Pancreatitis	ORPHA:412057
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Splenomegaly, Growth delay, Hypocalcemia, Pallor, Hypophosphatemia, ...	ORPHA:667
Myopathic Ehlers-Danlos Syndrome	Pallor, Mildly elevated creatine kinase	ORPHA:536516
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Mitral valve prolapse, Hypocalcemia, Anonychia, Generalized hirsu...	ORPHA:1563
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Palmoplant...	OMIM:605676
Bazex Syndrome	Yellow nails, Scaling skin, Nail dystrophy, Anemia	ORPHA:166113
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive az...	ORPHA:432
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Anem...	OMIM:127000
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Dilated cardiomyopathy, Palmoplanta...	OMIM:613989
Autoimmune Hypoparathyroidism	Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoca...	ORPHA:36913
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Hydrocele testis...	OMIM:137940
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Pallor, Neutropenia, Intrau...	OMIM:609053
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Cryptorchidism, Patchy alopecia, Short stature, Decreased testicular size	ORPHA:85279
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel...	ORPHA:1988
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Macs Syndrome	Alopecia, Short stature, Hypergonadotropic hypogonadism, Redundant skin, Sparse eyebrow, Cryptorc...	OMIM:613075
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair	ORPHA:659
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth ret...	ORPHA:2457
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Diarrhea...	OMIM:610768
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Ane Syndrome	Alopecia, Short stature, Decreased response to growth hormone stimulation test, Hypogonadotropic ...	ORPHA:157954
Bacterial Toxic-Shock Syndrome	Abscess, Elevated circulating creatine kinase concentration, Confusion, Abnormality of the lower ...	ORPHA:36234
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Classic Phenylketonuria	Hypopigmentation of hair, Depression, Attention deficit hyperactivity disorder, Hyperphenylalanin...	ORPHA:79254
2Q32Q33 Microdeletion Syndrome	Sparse hair, Decreased testicular size, Fine hair	ORPHA:251019
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Short stature, Hyp...	ORPHA:90796
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Hawkinsinuria	Hypertyrosinemia, Sparse hair	OMIM:140350
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus, Anemia	ORPHA:99927
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorchidism, Throm...	OMIM:227645
Hypotonia-Cystinuria Syndrome	Long eyelashes, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Hypocalciuric Hypercalcemia, Familial, Type Iii	Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Cryptorchidism	ORPHA:2872
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening	OMIM:617994
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, Brachydactyly	OMIM:602361
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, Preaxial polydactyly...	OMIM:617925
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal hair morphology, Elliptocytosis	ORPHA:86818
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Pseudohypoparathyroidism Type 1C	Calcinosis, Short metacarpal, Short fifth metatarsal, Confusion, Short metatarsal, Depression, Ir...	ORPHA:79444
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Postaxial hand polydactyly, ...	ORPHA:1655
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	OMIM:241080
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Gapo Syndrome	Alopecia, Sparse eyelashes, Short stature, Dysmenorrhea, Sparse eyebrow, Early balding, Oligozoos...	ORPHA:2067
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry...	ORPHA:2309
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Noonan Syndrome 6	Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair	OMIM:613224
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Short stature, Precocious puberty, Growth delay, Hypophosphatemic rickets	OMIM:163200
Leigh Syndrome	Alopecia, Neutropenia, Hyperalaninemia, Frontal hirsutism, Hepatic failure, Anemia, Hypertrichosis	ORPHA:506
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Dry sk...	ORPHA:428
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Hyperlipidemia, Lack of s...	ORPHA:90153
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ...	ORPHA:1005
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Pteryg...	OMIM:305000
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Short stature, Petechiae, Hypospadias, Cryptorchidi...	OMIM:617053
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, De...	ORPHA:90154
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Micrognathia, Hypoplas...	ORPHA:904
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Chronic diarrhea, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sp...	OMIM:158310
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Alstrom Syndrome	Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Hypergonadotropic hypogo...	OMIM:203800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Elevated ci...	OMIM:276700
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:536
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Cryptorchidism, Small nail, Intrauteri...	ORPHA:166035
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ...	OMIM:618541
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Hyperlipidemia, Pituitary adenoma, Irregular menstruation, Primary hy...	ORPHA:189427
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Overlapping fingers, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair mo...	OMIM:208900
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Pseudohypoparathyroidism Type 1A	Calcinosis, Short metacarpal, Short fifth metatarsal, Confusion, Broad 1st metacarpal, Short meta...	ORPHA:79443
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Pallor, Thrombocytosis, Anemia	ORPHA:20
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of ...	ORPHA:221016
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short stature, Decreased response to growth hormone stimulation test	OMIM:601853
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Hypertrichotic hyperpigmented patch, Atrial se...	OMIM:602782
Kury-Isidor Syndrome	Growth delay, Alopecia, Hypertrichosis	OMIM:619762
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Hypogonadism, Nail dystrophy, Small nail, ...	OMIM:601675
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien...	ORPHA:100075
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin, Hyperinsulinemia, Hypoglycemic seizures	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin, Hyperinsulinemia, Hypoglycemic seizures	ORPHA:71526
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Monosomy 18P	Alopecia, Short stature, Low posterior hairline	ORPHA:1598
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Williams-Beuren Syndrome	Bicuspid aortic valve, Premature graying of hair, Glucose intolerance, Atrial septal defect, Clin...	OMIM:194050
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
46,Xy Sex Reversal 6	Chordee, Hirsutism, Sparse axillary hair	OMIM:613762
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Cutis Laxa, Autosomal Recessive, Type Iiia	Cryptorchidism, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Sparse h...	OMIM:219150
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Left...	ORPHA:90065
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter	OMIM:617577
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hypocalcemic seizures, Anemia, Hepatomegaly	OMIM:612301
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Hyperammonemia, Vomiting, Hyperleucinemia	OMIM:210210
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Pallor, Hyperuricemia, Thrombocytosis	ORPHA:134
Ring Chromosome 10 Syndrome	Tapered finger, Sandal gap, Hypocalcemia, Micrognathia	ORPHA:1438
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Pallor, Abnormal circulating fatty-acid concentration	ORPHA:263455
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Hypocalcemia, Sparse hair, Hepatomegaly, Rhizomelia, Thin nail, Short toe,...	OMIM:218330
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Dravet Syndrome	Pallor	ORPHA:33069
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Keutel Syndrome	Alopecia, Short stature	ORPHA:85202
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia	OMIM:620195
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, Macroorchidism	ORPHA:284180
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Hypogonadism, Sparse hair, Decreased testicular size, Thick eyebrow	ORPHA:127
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic s...	OMIM:241410
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Vici Syndrome	Atrial septal defect, Hypopigmentation of hair, Left ventricular hypertrophy, Elevated circulatin...	OMIM:242840
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Micrognathia, Splenom...	OMIM:617913
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Sotos Syndrome	Pes planus, Hip contracture, Hyperpigmentation of the skin, Hypercalcemia, Ankle flexion contract...	ORPHA:821
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc...	ORPHA:173
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Biliary tract abnormality, Bile duct polyp	OMIM:175200
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ataxia, Arachnodactyly, Abnormal thumb morphology, Ocular albinism, Ath...	ORPHA:2719
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Cryptorchidism, Fine hair	OMIM:616817
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Pericardial effusion, Splenomeg...	ORPHA:2136
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Omodysplasia 1	Short humerus, Atrial septal defect, Rhizomelia, Increased fibular diameter, Ventricular septal d...	OMIM:258315
Complete Androgen Insensitivity Syndrome	Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor...	ORPHA:99429
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Degcags Syndrome	Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficiency anemia, ...	OMIM:619488
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Eosinophilia, Abno...	ORPHA:464
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia, Severe short stature	ORPHA:3163
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility	ORPHA:244
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal...	ORPHA:35173
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Amme Complex	Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Hyperlipidemia, Growth delay, Sparse hair	OMIM:608612
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Multiple Endocrine Neoplasia, Type I	Cafe-au-lait spot, Hypoglycemia, Hypercalcemia	OMIM:131100
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Hypoplastic male external gen...	ORPHA:1234
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
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Hype...	ORPHA:544482
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C...	ORPHA:53271
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Decrea...	ORPHA:79408
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionat...	OMIM:263520
Vitamin D-Dependent Rickets, Type 2A	Growth delay, Alopecia universalis, Secondary hyperparathyroidism, Hypophosphatemia, Hypocalcemic...	OMIM:277440
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar...	ORPHA:217346
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Thrombocytopenia...	ORPHA:2785
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Pseudohypoparathyroidism Type 1B	Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Depres...	ORPHA:94089
Joubert Syndrome 37	Sparse hair, Cryptorchidism, Decreased testicular size	OMIM:619185
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Leukocytosis, Hypoplasia of the ovary, Azotemia, Intrauterine growth ret...	OMIM:619321
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Abnormal blood ion concentration, Nail dystrophy, Anonychia, Abnormality of...	ORPHA:79404
Tetrasomy 12P	Sparse hair, Sparse eyebrow	ORPHA:884
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Neutrophilic Dermatosis, Acute Febrile	Anemia, Erythema, Pyoderma gangrenosum, Elevated circulating C-reactive protein concentration	OMIM:608068
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hyperammonemia, Hyperh...	ORPHA:79282
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Anemic pallor, Cryptorchidism, Throm...	OMIM:227646
Ruijs-Aalfs Syndrome	Premature graying of hair, Hypogonadism, Sparse hair	OMIM:616200
Lamellar Ichthyosis	Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Micrognathia, Synophrys, K...	OMIM:619503
American Trypanosomiasis	Splenomegaly, Pallor	ORPHA:3386
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy, Leukopenia	OMIM:615190
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Hyperammonemia	OMIM:618253
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb...	ORPHA:572333
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Postnatal growth retardation, Hyperlipidemia, Growth del...	OMIM:248370
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Abnormal eyelash morphology, Capitate-hamate fusion, 2-3 toe cutaneou...	OMIM:206920
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ...	ORPHA:69085
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Sparse hair	OMIM:614105
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Juvenile Dermatomyositis	Calcinosis, Alopecia, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:93672
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Absent eyelashes, S...	OMIM:268400
Pheochromocytoma	Cafe-au-lait spot, Hypercalcemia	OMIM:171300
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Synophrys, Short stature, Anemia	OMIM:300990
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent external genitalia, Absent ...	OMIM:263650
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia, Early balding, Low posterior hairline	ORPHA:261584
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Pallor, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Abnormal fingernail morphology	ORPHA:1647
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha...	ORPHA:466650
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Alopecia, Premature ovarian insufficiency, Short ...	ORPHA:79474
Gitelman Syndrome	Maternal diabetes, Pericardial effusion, Insulin resistance, Hypermagnesemia, Glucose intolerance...	ORPHA:358
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Anemia, Hyperphosphatemia, Hypocalcemi...	ORPHA:93325
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Growth delay, Hypoplastic nipples, Na...	OMIM:230740
Fumarase Deficiency	Polycythemia, Pallor, Hyperbilirubinemia	OMIM:606812
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Cognitive impairm...	OMIM:103580
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron, High anterior hairline, Anemia	ORPHA:438213
Multiple Endocrine Neoplasia Type 1	Short attention span, Confusion, Hypercalcemia, Depression, Large cafe-au-lait macules with irreg...	ORPHA:652
Immunodeficiency 22	Pericarditis, Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse h...	OMIM:613451
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ...	OMIM:614008
Dend Syndrome	Clinodactyly of the 4th finger, Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Occipital Horn Syndrome	Pes planus, Brachydactyly, Thick hair, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Down...	ORPHA:198
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy	ORPHA:98813
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Chronic hepatitis, Lymphadenopath...	ORPHA:289390
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Short attention span, Hypopigmentation of hair, Broad-based gai...	ORPHA:98794
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Multiple Endocrine Neoplasia Type 4	Fasting hyperinsulinemia, Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia	ORPHA:276152
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Hypernatremia, Hypoalbuminemia	OMIM:615508
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Nail dystro...	OMIM:615934
Craniofacioskeletal Syndrome	Pes planus, Atrial septal defect, Ventricular septal defect, Micrognathia, Hypoplastic frontal si...	OMIM:300712
Sanjad-Sakati Syndrome	Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
22Q11.2 Deletion Syndrome	Atrial septal defect, Arachnodactyly, Ventricular septal defect, Abnormal pulmonary valve morphol...	ORPHA:567
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H...	ORPHA:363618
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Short stature, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythema, Mild...	OMIM:308050
Slc39A8-Cdg	Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration	ORPHA:468699
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys...	OMIM:150400
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Micrognathia, Preaxial hand polydactyly, Postaxial h...	OMIM:236680
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Patch...	OMIM:302960
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Hypocalcemia, P...	ORPHA:3426
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Abnormality of hair pigmentation, Mitral valve prolaps...	ORPHA:90354
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor	OMIM:616307
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Scarf Syndrome	Sparse hair, Cryptorchidism, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme...	ORPHA:352731
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair	OMIM:613026
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Grfoma	Hypercalcemia, Palmoplantar hyperhidrosis, Hepatomegaly	ORPHA:97261
Prader-Willi Syndrome	Syndactyly, Hypopigmentation of hair, Acromicria, Hyperinsulinemia, Small hand, Genu valgum, Shor...	OMIM:176270
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Cardiomyopathy, L...	ORPHA:79430
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Fibrochondrogenesis 1	Hypoplastic fingernail, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long ...	OMIM:228520
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Progressive neurologic d...	OMIM:219800
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Zollinger-Ellison Syndrome	Increased glucagon level, Hypercalcemia	ORPHA:913
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera...	ORPHA:678
Ppoma	Hepatomegaly, Hypercalcemia	ORPHA:97278
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,...	ORPHA:411511
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty...	ORPHA:999
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy...	ORPHA:98795
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair	OMIM:619745
Tay-Sachs Disease	Pallor	OMIM:272800
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto...	ORPHA:892
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypogonadotropic hypogonadism, Sparse body hair	ORPHA:3068
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Sparse e...	ORPHA:125
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Penetrat...	ORPHA:548
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia	OMIM:193300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Secundum atrial septal defect, Overlapping fingers, Hyperglycemi...	OMIM:609069
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Distal Deletion 19P	Alopecia, Vaginal hernia, Thick eyebrow	ORPHA:96129
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes...	OMIM:615485
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Ataxia, Splenomegaly, Hypopi...	ORPHA:163746
Scarf Syndrome	Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair	OMIM:312830
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature, Female ...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature, Female ...	ORPHA:99228
Monosomy X	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature, Female ...	ORPHA:99226
Turner Syndrome	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature, Female ...	ORPHA:881
Xeroderma Pigmentosum	Alopecia, Short stature, Cryptorchidism, Erythema, Hypogonadism, Dry skin, Decreased testicular size	ORPHA:910
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl...	ORPHA:1340
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Cryptorchidism, Low an...	OMIM:608156
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Alopecia, Severe short stature, Short stature, Hypoplasia of penis, Cu...	ORPHA:3107
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Classical-Like Ehlers-Danlos Syndrome Type 2	Cryptorchidism, Alopecia, Hypertriglyceridemia, Redundant skin	ORPHA:536532
Brittle Cornea Syndrome 1	Red hair, Congenital hip dislocation, Mitral valve prolapse, Palmoplantar cutis laxa	OMIM:229200
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Alopecia	OMIM:613001
Charge Syndrome	Hypoplasia of the ulna, Overriding aorta, Ventricular septal defect, Down-sloping shoulders, Micr...	OMIM:214800
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Type II diabetes mellitus, Cogni...	ORPHA:398069
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Giant Cell Arteritis	Alopecia, Skin ulcer	ORPHA:397
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Cryptorchidism, Fine hair	OMIM:614438
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Prader-Willi Syndrome Due To Translocation	Pes planus, Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Micrognathia, Paten...	ORPHA:177907
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Naxos Disease	Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Systemic Sclerosis	Alopecia, Gastroparesis, Nail bed telangiectasia, Elevated circulating creatine kinase concentrat...	ORPHA:90291
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Ethylene Glycol Poisoning	Ataxia, Confusion, Hyperkalemia, Euphoria, Hypocalcemia	ORPHA:31826
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Gait disturbance, Multiple cafe-au-lait spo...	ORPHA:3214
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair, Abnormal circulating apolipoprotein concentration	ORPHA:357074
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Type II diabetes mellitus, Letha...	ORPHA:398079
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Pericardial effusion, Hypoalbuminemia, Hypocalc...	OMIM:618183
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Short stature, Perianal er...	OMIM:308205
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Short stature, Hypertriglyceridemi...	OMIM:264090
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Down Syndrome	Sparse hair, Decreased fertility	ORPHA:870
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Orofaciodigital Syndrome I	Alopecia, Dry hair, Short stature, Pancreatic cysts, Ovarian cyst, Sparse hair	OMIM:311200
Biotinidase Deficiency	Alopecia, Hyperammonemia	ORPHA:79241
Congenital Disorder Of Glycosylation, Type Iia	Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism	OMIM:212066
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short stature, Cryptorchidism, Patchy alopecia, Cholelithiasis, Micropenis, Decreased testicular ...	OMIM:300534
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ch...	OMIM:304150
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Alternating Hemiplegia Of Childhood	Pallor, Thin eyebrow	ORPHA:2131
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa...	OMIM:617506
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Digeorge Syndrome	Ventricular septal defect, Micrognathia, Splenomegaly, Anemia, Hypoplasia of the thymus, Patellar...	OMIM:188400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia, Hypoglycemic seizures	OMIM:609734
Linear Nevus Sebaceus Syndrome	Growth delay, Alopecia, Adenoma sebaceum	ORPHA:2612
Velocardiofacial Syndrome	Ventricular septal defect, Talipes, Hypocalcemia, Emotional lability, Tetralogy of Fallot	OMIM:192430
Koolen-De Vries Syndrome	Hypopigmentation of hair, Bicuspid aortic valve, Arachnodactyly, Abnormality of hair texture, Hip...	ORPHA:96169
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair, Cryptorchidism, Abnormal circulating lipid concentration	OMIM:616541
Carney Complex, Type 1	Cardiac myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin...	OMIM:200980
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Scaling skin, Nail dystrophy, Anoperineal fistula, Sparse hair, Alopecia universalis	ORPHA:158668
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha...	ORPHA:2710
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Abnormal toenail morphology,...	ORPHA:1827
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Chordee, Fine hair	OMIM:618891
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair	ORPHA:251028
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma, Hypophosphatemic rickets	ORPHA:2874
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Tetralogy of Fallot...	ORPHA:84
Cranioectodermal Dysplasia 3	Sparse hair, Short nail, Broad nail, Fine hair	OMIM:614099
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Oligozoospermia, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia	OMIM:614813
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse hair	OMIM:115150
Weaver Syndrome	Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair	OMIM:277590
Chronic Graft Versus Host Disease	Alopecia, Pancytopenia, Phimosis, Erythema, Skin ulcer, Onycholysis, Nail dystrophy, Skin vesicle...	ORPHA:99921
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Dry skin	ORPHA:2750
Johanson-Blizzard Syndrome	Sparse scalp hair, Atrial septal defect, Diabetes mellitus, Hepatomegaly, Ventricular septal defe...	OMIM:243800
Autosomal Recessive Robinow Syndrome	Alopecia, Hypoplasia of penis, Cryptorchidism, Long eyelashes, Disproportionate short-limb short ...	ORPHA:1507
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Abnormal eyelash morphology, Abn...	ORPHA:2273
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Breast aplasia, Cognitive impair...	ORPHA:238468
Focal Dermal Hypoplasia	Alopecia, Erythema, Abnormality of the nail	ORPHA:2092
Glass Syndrome	Sparse hair, Long eyelashes, Nail dysplasia	OMIM:612313
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Cryptorchidism, Loose anagen hair, Long eyelashes, Sparse hair	OMIM:607721
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair	OMIM:234100
Behcet Syndrome	Epididymitis, Erythema, Patchy alopecia, Genital ulcers	OMIM:109650
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joi...	ORPHA:289176
Wrinkly Skin Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Excessive skin wrinkling on dorsum o...	ORPHA:2834
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Cryptorchidism, Low anterior hairline, Low posterior...	OMIM:601358
Steinert Myotonic Dystrophy	Endometrial carcinoma, Alopecia, Hypergonadotropic hypogonadism, Hypercholesterolemia, Decreased ...	ORPHA:273
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido...	ORPHA:1974
Ring Chromosome 13 Syndrome	Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Ambiguous geni...	ORPHA:96176
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse ...	OMIM:129900
Esophageal Atresia	Growth delay, Abnormal external genitalia, Pallor	ORPHA:1199
Histiocytoid Cardiomyopathy	Pallor, Polycystic ovaries	ORPHA:137675
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Craniolenticulosutural Dysplasia	Sparse hair, Cryptorchidism, Coarse hair, Brittle hair	OMIM:607812
White-Sutton Syndrome	Sparse hair	OMIM:616364
Tibial Hemimelia	Absent tibia	OMIM:275220
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Cryptorchidism, Hyperuricemia	OMIM:300661
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Atrial septal defect, Atrioven...	ORPHA:818
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm...	ORPHA:363958
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Micrognathia, Hypo...	ORPHA:444077
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar...	ORPHA:477
Acute Transverse Myelitis	Decreased circulating copper concentration, Gastroparesis, Paralytic ileus, Constipation, Abnorma...	ORPHA:139417
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Diabetes mellitus, Small hand, Pedal edema, Short foot, Hip dysplasia, ...	ORPHA:98754
African Trypanosomiasis	Hepatomegaly, Alopecia, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Diarrhea, Hep...	ORPHA:3385
Prader-Willi Syndrome	Hypopigmentation of hair, Diabetes mellitus, Small hand, Short foot, Hip dysplasia, Attention def...	ORPHA:739
Cerebellar-Facial-Dental Syndrome	Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair	ORPHA:444072
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sparse hair, Synophrys, Toenail dysplasia, Hirsutism	OMIM:300966
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Diabetes mellitus, Small hand, Pedal edema, Short foot, Hip dysplasia, ...	ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Broad-based gait, Sandal gap, Ventricular septal defect, Long fingers, Cu...	OMIM:620330
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Diabetes mellitus, Small hand, Pedal edema, Short foot, Hip dysplasia, ...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Diabetes mellitus, Small hand, Pedal edema, Short foot, Hip dysplasia, ...	ORPHA:177901
Opitz-Kaveggia Syndrome	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:305450
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Agel Amyloidosis	Sparse hair, Nail dystrophy	ORPHA:85448
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Bardet-Biedl Syndrome 1	Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis, Abnormality of the ovary, H...	OMIM:209900
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Goodpasture Syndrome	Pallor, Anemia, Increased blood urea nitrogen	OMIM:233450
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Sparse eyebrow, Hypocholesterolemia	OMIM:244450
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Sparse hair	OMIM:613563
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Sparse ...	OMIM:602535
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Elevated circulating creatine kinase concentrati...	ORPHA:2388
Adams-Oliver Syndrome 1	Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic lef...	OMIM:100300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair	OMIM:614114
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair, Int...	ORPHA:2636
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology	ORPHA:2237
Menkes Disease	Hypopigmentation of hair, Bowing of the long bones, Hypoglycemia, Tarsal synostosis, Micrognathia...	ORPHA:565
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
De Barsy Syndrome	Sparse hair, Cryptorchidism	ORPHA:2962
Relapsing Polychondritis	Abnormal endocardium morphology, Alopecia, Pericarditis, Myocarditis, Hepatitis, Abnormal aortic ...	ORPHA:728
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial...	OMIM:304120
Vascular Ehlers-Danlos Syndrome	Alopecia, Short stature, Redundant skin, Hypospadias, Abnormality of hair texture, Abnormal eyela...	ORPHA:286
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped...	ORPHA:3144
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Sparse hair, Increased serum beta-hexosaminidase	OMIM:252500
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Premature Aging Syndrome, Penttinen Type	Sparse hair	OMIM:601812
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Thin nail	OMIM:617799
Kinsship Syndrome	Pes planus, Micrognathia, Coxa valga, Synophrys, Hip dislocation, Hypertrichosis, Fibular hypopla...	OMIM:619297
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Female hypogonadism, Alopecia totalis, Loss of eyelashes, Lack of skin elasticity...	ORPHA:740
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Hydrocele testis, Hypoplastic nipples, Sparse hair, Sparse late...	OMIM:280000
Cockayne Syndrome A	Dry hair, Cryptorchidism, Irregular menstruation, Hypogonadism, Sparse hair	OMIM:216400
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology	ORPHA:2036
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Sparse eyebrow, Hydrocele testis, Hypoplastic nipples, Small nail, Unconjugated hy...	OMIM:620186
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube mor...	ORPHA:722
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Synophrys, Low anterior...	OMIM:619841
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Hypoplastic toenails, Preax...	ORPHA:2753
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Cryptorchidism, Chordee	OMIM:151050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Elevated circulating creatine kinase concentration	OMIM:253280
Cockayne Syndrome B	Sparse hair, Cryptorchidism, Dry hair, Abnormal hair morphology	OMIM:133540
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Sparse hair	OMIM:619127
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow, Hyperbilirubinemia	OMIM:613610
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Myhre Syndrome	Sparse hair, Cryptorchidism, Thick eyebrow, Fine hair	OMIM:139210
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair, Cryptorchidism	OMIM:620005
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,...	OMIM:305600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperbilirubinemi...	OMIM:210710
Viss Syndrome	Sparse scalp hair, Alopecia, Ventricular septal defect, Coronary sinus enlargement, Hypereosinoph...	OMIM:619472
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Cryptorchidism, Nail dysplasia	OMIM:616682
Roberts Syndrome	Sparse hair, Cryptorchidism	ORPHA:3103
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Renpenning Syndrome 1	Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow	OMIM:309500
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Hypercholesterolemia, Hypertriglyceridemia, Sparse scalp hair	OMIM:606721
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Small scrotum, Sparse eyelashes, Rhizomelia, Supernumerary nipple, M...	OMIM:601803
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Bilateral cryptorchidism, Sparse hair, Alopecia of scalp, Fragi...	OMIM:150230
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Cryptorchidism, Synophrys...	ORPHA:3455
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism	OMIM:617157
Wrinkly Skin Syndrome	Sparse hair, Cryptorchidism, Short nail, Fragile nails	OMIM:278250
Menke-Hennekam Syndrome 1	Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow	OMIM:618332
Primrose Syndrome	Sparse scalp hair, Hypergonadotropic hypogonadism, Absent facial hair, Elevated circulating alpha...	OMIM:259050
Branchiooculofacial Syndrome	Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo...	OMIM:113620
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cryptorchidism	OMIM:268300
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125

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 Tmprss6

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 Tmprss6.

No publications found that use IMPC mice or data for Tmprss6.

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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
Tmprss6^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Tmprss6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tmprss6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tmprss6^{tm1e(EUCOMM)Wtsi}	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

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Gene: Tmprss6 MGI:1919003

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

Immunophenotyping

Human diseases caused by Tmprss6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data