Gene: Polg MGI:1196389

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

polymerase (DNA directed), gamma

Synonyms:

Polga, Pol gamma, polymerase gamma, mitochondrial DNA polymerase gamma, mitochondrial DNA polymerase-gamma

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Polg 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 Polg (12 diseases)
Human diseases predicted to be associated with Polg (1899 diseases)

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

Disease	Matching phenotypes	Source
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Secondary amenorrhea, Li...	OMIM:157640
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Decreased motor nerve conduction velocity, Decreased muscle mass, Foot d...	ORPHA:298
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Hearing impairment, Intestinal pseudo-obstruction, Slender build, Ragged-red muscle fibers, Gastr...	OMIM:613662
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroesophageal reflux, Cerebellar atrophy, Hearing impairment, Quadriceps muscle weakness, Shou...	ORPHA:254892
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abnor...	OMIM:607459
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Tracheomalacia, Cerebral atrophy, Failure to thrive, Cerebral cortical neurod...	OMIM:203700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Cerebella...	OMIM:258450
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Hand muscle weakness, Mu...	ORPHA:254886
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Atrophy/Degeneration involving the spinal cord, A...	ORPHA:70595
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, EEG with occipital epileptiform discharges, Myopathy	ORPHA:254881
Recessive Mitochondrial Ataxia Syndrome	Hashimoto thyroiditis, Dysphagia	ORPHA:94125
Alpers-Huttenlocher Syndrome		ORPHA:726

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

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev...	OMIM:620501
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P...	OMIM:300835
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:237800
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia	ORPHA:27
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Obesity, Mitral valve prolapse, Low posterior hairline, Sparse facial hair, Short ne...	ORPHA:2183
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia	OMIM:620603
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope...	ORPHA:444463
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Infantile Liver Failure Syndrome 1	Anemia, Macrocytic anemia	OMIM:615438
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Joint hypermobility, Short neck,...	OMIM:616033
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Birk-Aharoni Syndrome	Cryptorchidism, Macrocytic anemia	OMIM:620071
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Oliver-Mcfarlane Syndrome	Alopecia, Distal amyotrophy, Decreased response to growth hormone stimulation test, Long eyelashe...	OMIM:275400
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Recurrent otitis media, Nail dystrophy, Premature ovarian insufficiency, Absen...	OMIM:618625
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Sparse pubic hair, Male hypogonadism, Decreased serum testosterone con...	ORPHA:52901
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism, Hearing impairment	OMIM:615269
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Osteoporos...	ORPHA:397685
Premature Ovarian Failure 2B	Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteopo...	OMIM:300604
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I...	ORPHA:432
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity	OMIM:277410
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Flynn-Aird Syndrome	Alopecia, Progressive sensorineural hearing impairment, Joint stiffness, Increased bone density w...	OMIM:136300
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Failure to thrive, Generalized limb muscle atrophy, Microcytic anemia, Sidero...	OMIM:600462
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Myopathy, Hyperlordosis, EEG abnormality, Osteoporosis...	ORPHA:408
Refractory Celiac Disease	Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr...	ORPHA:398063
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:224100
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Hemochromatosis, Type 1	Alopecia, Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism,...	OMIM:235200
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Warburg Micro Syndrome 1	Low-set ears, Optic atrophy, Facial hypertrichosis, Failure to thrive, Cerebral atrophy, Hypertri...	OMIM:600118
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,...	OMIM:602390
Atransferrinemia	Hypochromic anemia	OMIM:209300
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis, Hypergonadotropic hypogonadism	ORPHA:1014
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Fail...	ORPHA:337
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Low-set ears, Intestinal malrotation, Congenital diaphragmatic hernia, Decreased skull ossificati...	OMIM:601163
Barth Syndrome	Abnormal mitochondrial morphology, Abnormality of neutrophils, Endocardial fibroelastosis, Dilate...	ORPHA:111
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia	ORPHA:2575
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Forsythe-Wakeling Syndrome	Low-set ears, Decreased body weight, Thrombocytopenia, Osteoporosis, Macrotia	OMIM:613606
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hearing impairment, Cerebral atrophy, Sideroblastic anemia...	OMIM:222300
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal amyotrophy...	OMIM:601382
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Thiamine-responsive megaloblastic anemia	OMIM:249270
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Hirsutism, Generalized osteoporosis, Kyphosis	OMIM:277950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Hypogonadism, Long eyelashes, Cr...	ORPHA:3363
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit...	ORPHA:2410
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid process, Cervical spin...	OMIM:305400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Hypopigmentation of the skin, Albinism, Osteoporosis, Hypopigmentation of hair, Ky...	ORPHA:2786
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy	ORPHA:100024
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Transcobalamin Deficiency	Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia	OMIM:275350
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Skeletal muscle atrophy, Camptodactyly of finger, Multiple lipomas,...	ORPHA:3294
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pancreatic Colipase Deficiency	Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Combined Oxidative Phosphorylation Deficiency 38	Failure to thrive, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase ...	OMIM:618378
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly, Lymphadenopathy	OMIM:618852
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Hearing impairment, Foot dorsiflexor weakness, Lower limb amyotrophy, Optic disc p...	OMIM:617087
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hypertrophic cardiomyopathy, Myopathy, Decreased activity of mitochondrial com...	OMIM:618234
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Decreased serum testosterone concentration, Infertility, Joint stiffness, ...	ORPHA:465508
Immunodeficiency 95	Lymphopenia	OMIM:619773
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Distal amyotrophy, Gastroesophageal reflux, Sensorineural hearing impa...	OMIM:617519
Nephronophthisis	Anemia	ORPHA:655
Maternal Uniparental Disomy Of Chromosome X	Camptodactyly of finger, Azoospermia, Low posterior hairline, Short neck, Ambiguous genitalia, Fl...	ORPHA:261519
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia, Neutropenia	OMIM:250940
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Sparse pubic hair, Decreased circulating dihydrotestosterone concentration, Male hypogonadism, Ab...	OMIM:228300
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i...	ORPHA:3000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Moynahan Syndrome	Hypogonadism, Alopecia, Sparse hair, Cachexia	ORPHA:2574
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Congenital Disorder Of Glycosylation, Type Iik	Low-set ears, Failure to thrive, Kyphoscoliosis, Joint hypermobility, Thrombocytopenia, Osteoporo...	OMIM:614727
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Decreased compound muscle action potential amplitude, Myopathy, Joint hyp...	OMIM:618323
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,...	ORPHA:91348
Morbid Obesity And Spermatogenic Failure	Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility	OMIM:615703
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia	OMIM:300752
Myotonic Dystrophy 1	Cholelithiasis, Frontal balding, Cerebral atrophy, Hypogonadism, Facial diplegia, Testicular atro...	OMIM:160900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Abnormal testis mo...	ORPHA:202
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Increased mean corpuscular vol...	OMIM:617052
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Osteopenia, Hyperconvex toenail, Fractures of the long bones, Abnormal hair morpho...	ORPHA:319195
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Abnormality of peripheral nerve conduction, Abnormality of the cervica...	ORPHA:48431
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Deleted in azoospermia	Azoospermia	OMIM:400003
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility	OMIM:604931
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula...	OMIM:308700
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis	OMIM:604416
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc...	ORPHA:457050
Kallmann Syndrome With Spastic Paraplegia	Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cry...	OMIM:308750
Ring Chromosome 21 Syndrome	Thoracic hemivertebrae, Abnormal heart morphology, Azoospermia, Amenorrhea, Fused thoracic verteb...	ORPHA:1445
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, High palate, Scoliosis, K...	OMIM:611225
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Small for gestational age, Cerebellar atrophy, Failure to thrive, ...	OMIM:214150
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Hypogonadism, Nail dystrophy, Reticular hyperpigmentation, Erythroid hypoplasia...	OMIM:618165
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia, Delayed puberty, Hearing impairment	OMIM:615271
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia...	OMIM:235700
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressive sperm motility, Short ...	OMIM:620438
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Cryptorchidism, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, J...	OMIM:615381
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti...	OMIM:613990
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Absence of pubertal development, Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotr...	OMIM:610628
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Alopecia, Skeletal muscle atrophy, Central adrenal insufficiency, Reduced ...	OMIM:612079
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Hypergonadotropic hypogonadism, Aplasia/Hypoplasia of the eyebrow, Fl...	ORPHA:2850
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Testicular atrophy, Erec...	ORPHA:481
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidi...	OMIM:614837
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Immunodeficiency 104	T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,...	OMIM:600501
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Low-set, posteriorly rotated ears, Congenital pyloric atresia, Reduced...	ORPHA:2617
Dna2-Related Mitochondrial Dna Deletion Syndrome	Slender build, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle...	ORPHA:352470
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ...	OMIM:600175
Ovarian Dysgenesis 1	Primary amenorrhea, Osteoporosis, Increased circulating gonadotropin level, Gonadal dysgenesis	OMIM:233300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Perrault Syndrome 1	Cerebellar atrophy, Gonadal dysgenesis, Sensorineural hearing impairment, Primary amenorrhea, Inc...	OMIM:233400
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Premature graying of hair, Elbow flexion contracture, Hypogonadism, Decr...	OMIM:616200
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Hypogonadism, Osteoporosis,...	ORPHA:79230
Hyaline Fibromatosis Syndrome	Low-set ears, Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flex...	OMIM:228600
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Limb muscle weakness, Calf muscle hypertrophy, Testicular atrophy, Dysphagia	OMIM:313200
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Secondary amenorrhea, Li...	OMIM:157640
Tietz Syndrome	Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation...	ORPHA:42665
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Camptodactyly of finger, Increased circulating IgE level, Hyp...	ORPHA:3409
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Low posterior hairl...	ORPHA:2578
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Flynn-Aird Syndrome	Cerebral cortical atrophy, Alopecia, Skeletal muscle atrophy, Progressive sensorineural hearing i...	ORPHA:2047
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi...	ORPHA:90796
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Decreased muscle mass, Hypogonadism, Decreased te...	OMIM:229070
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Nail dystrophy, Thrombocytopenia, Te...	OMIM:613987
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia, Abnormality of chromosome stability	OMIM:600546
Classic Galactosemia	Cryptorchidism, Hepatomegaly, Abnormal erythrocyte enzyme concentration or activity, Decreased fe...	ORPHA:79239
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Hemolytic anemia, Chronic hem...	OMIM:615512
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Premature graying of hair, Decreased response to growth hormone stimulati...	ORPHA:280679
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Celiac Disease, Susceptibility To, 1	Alopecia, Type I diabetes mellitus, Rickets, Failure to thrive, Macrocytic anemia, Iron deficienc...	OMIM:212750
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Hip contracture, Generalized hirsutism, Short neck, ...	OMIM:255800
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Beta-Thalassemia	Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Cantu Syndrome	Platyspondyly, Congenital hypertrophy of left ventricle, Umbilical hernia, Long eyelashes, Curly ...	OMIM:239850
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Hearing impairment, Distal lower limb amyotrophy, Distal uppe...	ORPHA:101075
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Cerebellar atrophy, Male infertility	ORPHA:276183
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Hearing i...	ORPHA:189
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, Absence of lymph node germinal center, B lymphocytopenia	ORPHA:277
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Low-set ears, Osteoporosis, Cryptorchidism, Cerebral atrophy	ORPHA:2958
48,Xxyy Syndrome	Abnormal dental enamel morphology, Decreased testicular size, Azoospermia, Obesity, Type II diabe...	ORPHA:10
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Immunodeficiency 44	Lymphopenia	OMIM:616636
X-Linked Intellectual Disability, Snyder Type	Low-set ears, Decreased muscle mass, Cryptorchidism, High palate, Hypospadias, Patchy hypo- and h...	ORPHA:3063
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Skeletal muscle atrophy, Hearing impairment, Increased bone mineral density, Long ...	OMIM:614856
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Adrenal Hypoplasia, Congenital	Precocious puberty, Muscular dystrophy, Failure to thrive, Absence of pubertal development, Adren...	OMIM:300200
Zimmermann-Laband Syndrome 3	Bifid uvula, Facial hypertrichosis, Small nail, Hypertrichosis, Long eyelashes, Thick eyebrow, Ab...	OMIM:618658
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Cryptorchidism, Primary amenorrhea,...	OMIM:614880
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Optic atrophy, Joint hypermobility	ORPHA:2787
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ...	ORPHA:398079
48,Xyyy Syndrome	Male hypogonadism, Azoospermia, Radioulnar synostosis, Short neck, Enamel hypoplasia, Primary gon...	ORPHA:99329
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
H Syndrome	Alopecia, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosplenomegaly, Dec...	ORPHA:168569
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Prieto Syndrome	Low-set ears, Osteoporosis, Cryptorchidism, Cerebral atrophy	OMIM:309610
Erythrokeratodermia Variabilis	Alopecia, Irregular hyperpigmentation, Hearing impairment, Abnormal hair morphology, Protruding e...	ORPHA:317
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Generalized amyotrophy, Dilated cardiomyopathy, Decreased mitochondrial number, ...	ORPHA:352447
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall...	OMIM:618300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Macrotia, Decreased body weight, Posteriorly rotated ears, Reduced bon...	OMIM:618392
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism, Torticollis	OMIM:613724
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid aortic valve, Atri...	ORPHA:371428
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced b...	OMIM:616435
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Osteopenia, Atypical scarring of skin, Umbilical hernia, Thin eyebrow, Atrophic scars...	OMIM:618000
Sialidosis Type 2	Skeletal muscle atrophy, Hearing impairment, Splenomegaly, Osteoporosis, Flexion contracture, Kyp...	ORPHA:87876
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Spondylo-Ocular Syndrome	Platyspondyly, Low-set ears, Iris hypopigmentation, Abnormal eyebrow morphology, Abnormal antihel...	ORPHA:85194
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec...	ORPHA:300298
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Cerebellar atrophy, EEG with burst suppression, Atrophy/Degeneration aff...	OMIM:619971
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Small...	OMIM:618484
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Progeria-Short Stature-Pigmented Nevi Syndrome	Generalized osteoporosis, Decreased serum estradiol, Alopecia, Osteopenia, Small for gestational ...	ORPHA:2959
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Female infertility, Ambiguous genitalia, female, Obe...	ORPHA:91
Oculopharyngodistal Myopathy	High, narrow palate, Proximal muscle weakness in upper limbs, Progressive sensorineural hearing i...	ORPHA:98897
Werner Syndrome	Premature graying of hair, Slender build, White forelock, Decreased fertility, Type II diabetes m...	ORPHA:902
Revesz Syndrome	Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia	OMIM:268130
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Neutropenia	ORPHA:79284
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa...	ORPHA:398069
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis	ORPHA:79278
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
Ravine Syndrome	Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains...	ORPHA:99852
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Atrophic scars, Myopathy, Distal joint hypermobil...	OMIM:616471
Candidiasis, Familial, 1	Alopecia, Abnormality of the endocrine system	OMIM:114580
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98754
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Hearing impairment, Hypogonadism, Absence of pubertal development, Osteoporosis	OMIM:615267
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia	OMIM:613561
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu...	OMIM:619518
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Fetal Akinesia Deformation Sequence 4	Low-set ears, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Cryptorchidism, Short ...	OMIM:618393
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Abnormal denta...	ORPHA:2325
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Pituitary adenoma, Macrocytic anemia, Eosinophilia, Adrenocorticotropic hormon...	ORPHA:199299
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Anterior pituita...	ORPHA:227990
Hamamy Syndrome	Osteopenia, Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Abnormal number of hair w...	OMIM:611174
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Enamel hypoplasia, Osteoporosis, Scoliosis, Kyphosis, Irregular...	OMIM:234250
Young Syndrome	Azoospermia	OMIM:279000
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral c...	OMIM:301900
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni...	OMIM:617243
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia	ORPHA:261250
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Nail dysplasia, Delayed pube...	OMIM:615704
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98793
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Hearing impairment, Decreased nerve conduction velocity, Scoliosis, Kyph...	ORPHA:101078
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Hypogonadism, Osteopenia, Delayed puberty, Osteoporosis	OMIM:615270
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Morgagni-Stewart-Morel Syndrome	Cerebral cortical atrophy, Vertigo, Obesity, Abnormality of the thyroid gland, Hirsutism, Hypothy...	ORPHA:77296
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Generalized amyotrophy, Dilated cardiomyopathy, Decreased activity of mitochondr...	OMIM:615084
N Syndrome	Leukemia, Abnormality of chromosome stability, Cryptorchidism	OMIM:310465
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177904
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue atrophy, Distal amyotrophy, De...	OMIM:601596
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Cerebral atrophy, ...	OMIM:611890
Ataxia-Telangiectasia	Abnormality of chromosome stability, Skeletal muscle atrophy, Aplasia/Hypoplasia of the thymus, F...	ORPHA:100
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1

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