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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	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177901
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Splenomegaly, Anemia of inadequate production	OMIM:612714
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Slender build, Torticollis, High palate, Spinal r...	OMIM:254090
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur...	ORPHA:77297
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear, Cachexia, Aplasia/Hypoplasia o...	ORPHA:2471
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Small for gestational age, Kyphosis, Hirsutism	ORPHA:85288
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hype...	ORPHA:1875
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Decreased motor nerve conduction velocity, Decreased muscle mass, Foot d...	ORPHA:298
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Cerebellar atrophy, Hearing impairment, Failure to thrive, Myopathy, Flexion contr...	OMIM:618237
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Cerebe...	OMIM:606612
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, Sc...	ORPHA:2905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Epiphyseal stippling, Calcific stippling of infantile cartilaginous skeleton, Kyphoscol...	OMIM:215100
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Anterior pituita...	ORPHA:227982
Dyskeratosis Congenita	Hearing impairment, White hair, Premature graying of hair, Hypopigmented skin patches, Displaceme...	ORPHA:1775
Shashi-Pena Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Hypertrichosis, Long eyelashes, Cervical C2/C3 v...	OMIM:617190
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit...	OMIM:607624
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Abnormality of chromosome stability	ORPHA:2268
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature graying of hair...	OMIM:300845
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Osteoporosis, Primar...	OMIM:615300
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology, Hypogonadotropic hypogonadism, Os...	ORPHA:494
Riboflavin Transporter Deficiency	Iris hypopigmentation, Cerebral cortical atrophy, Skeletal muscle atrophy, Diabetes insipidus, Pr...	ORPHA:97229
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hearing a...	OMIM:259450
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hyperc...	OMIM:615830
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorchidism, Hernia, Abnorma...	ORPHA:3051
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Hypertrichosis, Protruding ear, Decreased circulating antibody level, Scolios...	ORPHA:85317
Barth Syndrome	Dilated cardiomyopathy, Fair hair, Failure to thrive, Hypertrophic cardiomyopathy, Cyclic neutrop...	OMIM:302060
Zimmermann-Laband Syndrome 2	Hypertrichosis, Long eyelashes, Thick eyebrow, Widow's peak, Sensorineural hearing impairment, Hi...	OMIM:616455
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Failure to thrive, Premature gray...	OMIM:613989
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Failure to thrive, Hypogonadism, Congenital sensorin...	ORPHA:73272
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia, Hydrocele testis	OMIM:618972
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Secondary amenorrhea, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diab...	ORPHA:3085
Ane Syndrome	Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo...	ORPHA:157954
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea...	OMIM:619947
Waardenburg-Shah Syndrome	Hearing impairment, Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnor...	ORPHA:897
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Waardenburg Syndrome Type 2	Hearing impairment, Hypopigmented skin patches, Premature graying of hair, White forelock, Sensor...	ORPHA:895
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch...	ORPHA:99013
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia	OMIM:618624
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Osteopenia, Increased variability in muscle fiber dia...	OMIM:613327
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Premature graying of hair...	ORPHA:33445
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Nestor-Guillermo Progeria Syndrome	Sparse eyelashes, Limited elbow movement, Right atrial enlargement, Alopecia, Sparse eyebrow, Lef...	OMIM:614008
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Autism Spectrum Disorder Due To Auts2 Deficiency	Highly arched eyebrow, Joint contracture of the hand, Small for gestational age, Congenital contr...	ORPHA:352490
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
48,Xxxy Syndrome	Small scrotum, Abnormal dental enamel morphology, Decreased testicular size, Azoospermia, Hypogon...	ORPHA:96263
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Myopathy, Distichiasis, Delayed puberty, Anemia, High palate, Sc...	ORPHA:2598
Spondyloepiphyseal Dysplasia Tarda	Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter...	ORPHA:93284
L-Ferritin Deficiency	Alopecia	OMIM:615604
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Low-set ears, Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connect...	ORPHA:178148
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential...	OMIM:125250
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Hearing impairment, Intestinal pseudo-obstruction, Slender build, Ragged-red muscle fibers, Gastr...	OMIM:613662
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Osteopenia, Hypertrichosis, Abnormal heart valve morphology, Large for ges...	ORPHA:363705
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Abnormal heart morphology, Decreased testicular size, External genital hypopl...	ORPHA:1867
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Elevated circulating parathyroid hormone lev...	ORPHA:289157
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia	OMIM:618805
Immunodeficiency 115 With Autoinflammation	Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly	OMIM:620632
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Failure to thrive, Hypertrophic cardiomyopathy, Delayed puberty, Hepatomegaly, Osteop...	ORPHA:369
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Inguinal hernia, Congenital diaphragmatic hernia, Macrocyti...	OMIM:614294
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Juvenile Paget Disease	Optic atrophy, Coarse metaphyseal trabecularization, Hearing impairment, Cranial hyperostosis, Me...	ORPHA:2801
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Muscular dystrophy...	OMIM:253700
Autosomal Recessive Spastic Paraplegia Type 53	Hearing impairment, Upper limb hypertonia, Failure to thrive, Joint hypermobility, Abnormal audit...	ORPHA:319199
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Cryptorchidism, Thrombocytopenia	OMIM:620365
Renpenning Syndrome	High, narrow palate, Hypospadias, Alopecia, Abnormal hairshaft morphology, Skeletal muscle atroph...	ORPHA:3242
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil...	ORPHA:91349
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Bicuspid aorti...	ORPHA:1772
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Reticular Dysgenesis	Hearing impairment, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss,...	ORPHA:33355
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Decreased fumarate hydratase...	OMIM:150800
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Sparse pubic hair, Osteopenia, Aplasia/hypoplasia of the uterus, Gonad...	ORPHA:243
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Restrictive cardiomyopathy, Patent foramen ovale, Osteolysis involving bones of the upp...	ORPHA:88630
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp...	OMIM:618187
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Hypopigmentation of the skin, Limitation of joint mobility, Failure to ...	OMIM:236200
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Hypermobility of interphalangeal joints, Hearing impairment, Osteoporos...	OMIM:613849
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Hypoplastic l...	ORPHA:739
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Werner Syndrome	Hypogonadism, Alopecia of scalp, Reduced bone mineral density, Low back pain, Osteoporosis, Eleva...	OMIM:277700
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Difference Of Sex Development-Intellectual Disability Syndrome	Small scrotum, Hypoplasia of penis, Low-set, posteriorly rotated ears, Hypogonadism, Reduced bone...	ORPHA:2983
Acatalasemia	Microcytic anemia	ORPHA:926
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Hepatosplenomegaly, Hypopituitarism	OMIM:619013
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe...	ORPHA:189427
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Impotence, Cardiomyopathy	ORPHA:85447
Post-Traumatic Pituitary Deficiency	Osteopenia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased ...	ORPHA:95619
Hajdu-Cheney Syndrome	Low-set ears, Cryptorchidism, Short neck, High palate, Hypospadias, Patent ductus arteriosus, Ost...	OMIM:102500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Distal amyotrophy, Hearing impairment, Decreased nerve condu...	OMIM:601455
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Joint stiffness, Decreased body weight, Absent eyela...	ORPHA:2985
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp...	ORPHA:2930
Diencephalic Syndrome	Optic atrophy, Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Abnormality of the hyp...	ORPHA:1672
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Osteoporosis	OMIM:614838
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Mantle Cell Lymphoma	Weight loss, Splenomegaly	ORPHA:52416
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Cryptorchidism	OMIM:616910
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Kerion Celsi	Alopecia	ORPHA:499
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Chromosomal breakag...	OMIM:620133
Björnstad Syndrome	Hypogonadism, Alopecia, Brittle hair	ORPHA:123
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Hypochromic anemia, Metrorrhagia, Pulmonic stenosis, Jo...	ORPHA:99147
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Horner syndrome, Tongue atrophy, Poliosis, Microtia	OMIM:141300
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Cerebellar atrophy, Decreased circulating IgA level, Hirsutism, ...	OMIM:300861
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Skeletal muscle atrophy, Increased circulating ACTH level, Obesity, Biconcave ...	OMIM:219090
Mucopolysaccharidosis, Type Iva	Platyspondyly, Hypoplasia of the odontoid process, Abnormal heart valve morphology, Grayish ename...	OMIM:253000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Macs Syndrome	Alopecia, Sparse eyebrow, Umbilical hernia, Cryptorchidism, Joint hypermobility, Decreased body w...	OMIM:613075
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Splenomegaly,...	ORPHA:264580
Mogs-Cdg	Hepatosplenomegaly, Sensorineural hearing impairment, High palate, Alopecia, Long eyelashes, Exte...	ORPHA:79330
Cantú Syndrome	Platyspondyly, Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Lo...	ORPHA:1517
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur...	ORPHA:2885
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of finger, Fingernail dy...	ORPHA:2251
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Osteopenia, Optic atrophy, Intestinal bleeding, Oral leukoplakia, Fi...	OMIM:612199
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan...	ORPHA:79474
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Knee flexio...	OMIM:615290
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Pseudobulbar paralysis, Localized osteoporosis, Alopecia of scalp, Kyphoscoliosis, Diffuse cerebr...	ORPHA:199354
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Cerebral atrophy, Lumbar hyperlordosis, Obesity, Sensorineural hearing impairment, Scoliosis, Kyp...	OMIM:616756
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout, Type II diabetes mellitus	OMIM:610947
Sandhoff Disease	Splenomegaly, Failure to thrive, Kyphosis, Hearing impairment	ORPHA:796
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Bone-marrow foam cells	OMIM:257200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin, Cryptorchidism	ORPHA:98791
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Increased circulating cortisol level, Decreased circulating ...	OMIM:219080
Aids Wasting Syndrome	Abnormal gonadotropin-releasing hormone concentration, Cachexia, Skeletal muscle atrophy, Weight ...	ORPHA:90081
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71526
Osteoporosis	Osteoporosis	OMIM:166710
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly	OMIM:620210
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD...	ORPHA:331206
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Cryptorchidism, Neutropenia	OMIM:614857
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo...	ORPHA:8
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad...	OMIM:619718
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Osteoporosis, Splenomegaly, Failure to thrive	ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 5	Iron deficiency anemia, Splenomegaly	OMIM:616278
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp...	ORPHA:785
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:98855
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Hearing impairment, Scoliosis, Kyphosis, Skele...	ORPHA:99014
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis, Sensorineural hearing impairment	ORPHA:71267
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Intestinal Dysmotility Syndrome	Low-set ears, Decreased intestinal transit time, Failure to thrive, Weight loss, High palate	OMIM:620045
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hearing impairment, Cryptorchidism, Hip contracture, Short neck, F...	OMIM:193700
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Woolly Hair Nevus	Congenital posterior occipital alopecia, Precocious puberty, Fine hair, Woolly scalp hair, Hetero...	ORPHA:79414
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Cerebellar atrophy, Cerebral atrophy, Frontal upsweep of hair, Cryptorchidism, Scoliosi...	OMIM:619797
Prader-Willi Syndrome	Small scrotum, Decreased muscle mass, Hyperinsulinemia, Frontal upsweep of hair, Type II diabetes...	OMIM:176270
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, HbH hemoglobin, Umbilical hernia, Cryptorchidism, Kyphoscoliosis, Ventricular septal...	OMIM:301040
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, ...	ORPHA:273
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Waardenburg Syndrome Type 1	Hearing impairment, White hair, Premature graying of hair, Abnormal hair morphology, Congenital s...	ORPHA:894
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue atrophy,...	ORPHA:101085
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Proximal amyotrophy, Hyperlordosis, Scoliosis, Increased adipose tissue, Spinal rigidity	OMIM:617404
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Amenorrhea, Osteolytic defects of the phalanges of the hand, Hypo...	OMIM:600705
Pulmonary Blastoma	Weight loss	ORPHA:64741
Lead Poisoning	Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm motility, Abnormality of th...	ORPHA:330015
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Intestinal lymphangiectasia, Camptodactyly, Osteoporosis, Microtia	OMIM:616006
Lowry-Maclean Syndrome	Low-set ears, Osteopenia, High, narrow palate, Bilateral cryptorchidism, Congenital diaphragmatic...	ORPHA:2409
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pathologic fracture, Hypersplenism, Increased proportion of CD25+ ma...	ORPHA:98850
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Hearing impairment, Lumbar hyperlordosis, Reduced bone mineral density, ...	ORPHA:94068
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613265
15Q24 Microdeletion Syndrome	Abnormality of the outer ear, High anterior hairline, Hypospadias, Small for gestational age, Hea...	ORPHA:94065
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Joint stiffness, R...	ORPHA:1979
19P13.3 Microduplication Syndrome	Low-set ears, Precocious puberty, Gastroesophageal reflux, Cerebral atrophy, Unilateral cryptorch...	ORPHA:447980
49,Xxxxy Syndrome	Small scrotum, Abnormal dental enamel morphology, Decreased testicular size, Azoospermia, Hypogon...	ORPHA:96264
Wilson Disease	Proximal muscle weakness in lower limbs, Failure to thrive, Abnormality of the menstrual cycle, P...	ORPHA:905
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Kyphosis, Cerebral atrophy	OMIM:618453
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Congenital Disorder Of Glycosylation, Type Ii	Decreased body weight, Joint hypermobility, Hypothyroidism, Iron deficiency anemia, Hepatomegaly	OMIM:607906
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Splenomegaly, B lymphocytopenia	ORPHA:397596
Congenital Muscular Dystrophy Due To Lmna Mutation	Limitation of joint mobility, Skeletal muscle atrophy, Myopathy, Joint hypermobility, Cachexia, H...	ORPHA:157973
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Hypospadias, Gastroesophageal reflux, Central hypothyroidism, Hearing impairment, Contracture of ...	OMIM:300998
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Decreased methylmalonyl-CoA mutase activity, Neutropenia	OMIM:277400
Isaacs Syndrome	EEG abnormality, Weight loss, Calf muscle hypertrophy, Hyperhidrosis	ORPHA:84142
Srd5A3-Cdg	Microcytic anemia, Decreased response to growth hormone stimulation test	ORPHA:324737
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn...	ORPHA:75840
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Flexion contracture, Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis	OMIM:203550
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Skeletal muscle atrophy, Splenomegaly, Rhabdomyolysis, Dysmenorrhea, Poly...	ORPHA:79240
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ...	OMIM:103580
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:98853
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Mixed hearing impairment, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Gastroesophageal reflux, Scoliosis, Kyphosis, Hirsutism	OMIM:300434
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility...	ORPHA:91347
Aicardi-Goutieres Syndrome 9	Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Pericardial effusion, Hepatomegaly, Left...	OMIM:619487
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ...	OMIM:610475
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Type I diabetes mellitus, Rickets, Hearing impairment, Mottled pigmentati...	OMIM:560000
Premature Aging Syndrome, Okamoto Type	Low-set ears, Abnormal hair morphology, Osteoporosis, Diabetes mellitus, Abnormal pinna morphology	OMIM:601811
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Joint stiffness, Recurrent fractures, Osteopor...	ORPHA:2771
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormal toenail morphology, J...	ORPHA:1515
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Alopecia, Splenomegaly	ORPHA:100025
Johnson Neuroectodermal Syndrome	Alopecia, Failure to thrive, Hypogonadism, Tetralogy of Fallot, Absent eyelashes, Facial palsy, A...	ORPHA:2316
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Propionic Acidemia	Failure to thrive, Cardiomyopathy, Pancytopenia, Hepatomegaly, Limb hypertonia, Thrombocytopenia,...	OMIM:606054
Camurati-Engelmann Disease, Type 2	Osteopenia, Skeletal muscle atrophy, Hypogonadism, Hyperostosis, Knee flexion contracture, Hip co...	OMIM:606631
Hirschsprung Disease	Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Neoplasm of t...	ORPHA:388
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Failure to thrive, Osteomyelitis, Sensorineural hearing imp...	ORPHA:47
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia	ORPHA:79351
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Aplastic anemia, Small nail, Oral leukoplakia, Esophageal stricture,...	OMIM:224230
Hajdu-Cheney Syndrome	Aortic valve stenosis, Ventricular septal defect, Generalized hirsutism, Hernia, Short neck, Decr...	ORPHA:955
Addison Disease	Adrenal calcification, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Thymoma,...	ORPHA:85138
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Hypopigmented skin patches, Hepatosplenomegaly, White forelock, Cryptorchidis...	OMIM:609136
Neu-Laxova Syndrome	Osteopenia, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Rickets, A...	ORPHA:2671
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Large earlobe, Osteoporos...	OMIM:615851
Pseudopseudohypoparathyroidism	Obesity, Pseudohypoparathyroidism, Short neck, Enamel hypoplasia, Osteoporosis	OMIM:612463
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Alopecia, Coarse metaphyseal trabecularization, Abnormal form of the vertebr...	ORPHA:93160
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ...	ORPHA:52368
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Hypertrichosis, Azoospermia, Type II di...	OMIM:210900
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp...	ORPHA:98863
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Joint hypermobility, Hyperlordosis, High palate...	OMIM:300831
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Inc...	OMIM:610489
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Infantile Systemic Hyalinosis	Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Osteomalacia, Camptodactyly of f...	ORPHA:2176
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Prominent antihelix, Annular pancreas, Anteriorly placed anus, Prematur...	OMIM:268400
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ...	OMIM:618278
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Sparse eyebrow, Decreased muscle mass, Recurrent fractures, Cry...	OMIM:309583
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick eyebrow, Low posterior hairline, Thick hair, Truncal obesity, Scoliosis, Kyphosis, Synophrys	ORPHA:2429
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Normochromic microcytic anemia, Decreased testicular s...	OMIM:610198
Castleman Disease	Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, D...	ORPHA:160
Gapo Syndrome	Alopecia, Sparse eyebrow, Abnormal form of the vertebral bodies, Umbilical hernia, Hypogonadism, ...	ORPHA:2067
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Fine hair, Prominent ear helix, Elbow flexion contracture, Cryptorchidism, Osteoporos...	OMIM:614438
Idiopathic Achalasia	Gastroesophageal reflux, Dysphagia, Weight loss	ORPHA:930
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Skeletal muscle hypertrop...	OMIM:300280
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr...	OMIM:620651
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular se...	ORPHA:66634
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu...	ORPHA:2635
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Abnormal testis morphology, Scoliosis, Hypospadias, Kyphosis	ORPHA:1548
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hypertrophic cardiomyopathy, Joint hypermobility, Hernia, Hepatomegaly, Short ...	ORPHA:1842
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Dilated cardiomyopathy, Bilateral cryptorchidism, Decreased testicular size, Hypogona...	ORPHA:2326
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus	OMIM:601076
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Nonprogressive muscular atrophy, Joint stiffness, Distal amyotrophy	ORPHA:1216
Christianson Syndrome	Cerebral cortical atrophy, Gastroesophageal reflux, Cerebellar atrophy, Decreased muscle mass, Th...	ORPHA:85278
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Optic atrophy, Cerebellar atrophy, EEG abnormality, Osteoporosis	ORPHA:529665
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Os odontoideum, Biconc...	OMIM:619260
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Macroglossia, Global brain atrophy, Skeletal muscle atrophy, EEG with genera...	ORPHA:488632
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Hepatomegaly	ORPHA:99931
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Spl...	OMIM:618935
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova...	ORPHA:3130
Menkes Disease	Alopecia, Hypopigmentation of the skin, Joint hypermobility, Hypsarrhythmia, Brittle hair, Osteop...	OMIM:309400
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi...	ORPHA:100083
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Johanson-Blizzard Syndrome	Alopecia, Abnormal vagina morphology, Failure to thrive, Abnormality of the female genitalia, Abn...	ORPHA:2315
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Weight loss, Cleft palate	ORPHA:141152
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Arthrogryposis, Distal, Type 4	Hypoplastic helices, Osteopenia, Camptodactyly of 2nd-5th fingers, Low anterior hairline, Lumbar ...	OMIM:609128
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Platyspondyly, Biconvex vertebral bodies, Vertebral wedging, Abnor...	ORPHA:93315
Sneddon Syndrome	Lymphopenia	OMIM:182410
Schwartz-Jampel Syndrome	Hip contracture, Myopathy, Generalized hirsutism, Decreased body weight, Short neck, Cachexia, Hi...	ORPHA:800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Skeletal muscle atrophy, Dystrophic toenail, Abnormal cortical bone morpholo...	ORPHA:970
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Weight loss, Macrogloss...	ORPHA:2221
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Low-set ears, Lambdoidal craniosynostosis, Osteopenia, Cerebellar atrophy, Cerebral atrophy, Larg...	OMIM:615398
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Sensorineural hearing ...	ORPHA:1883
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Joint stiffness, Grayis...	OMIM:253010
Heart Defects-Limb Shortening Syndrome	Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve...	ORPHA:1354
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Kyphosis, Sclerosis of skull base, Knee flexion contracture, Hip contracture, Thor...	OMIM:313420
Cockayne Syndrome B	Dry hair, Limitation of joint mobility, Abnormal hair morphology, Cryptorchidism, Sensorineural h...	OMIM:133540
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis, Muscular dystrophy	OMIM:204730
X Small Rings	Mitral stenosis, Ventricular septal defect, Low posterior hairline, Bicuspid aortic valve, Short ...	ORPHA:96201
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Isosexual precocious pube...	ORPHA:2788
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, G...	ORPHA:1933
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Camptodactyly of finger, Lumbar hyperlordosis, Mitral valve prolapse...	ORPHA:2848
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Fair hair, Congenital hypothyroidism, Obesity, Cryptorchidism, Blue irides, Red hair...	OMIM:614613
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Schaaf-Yang Syndrome	Hypogonadism, Failure to thrive in infancy, Obesity, Thick eyebrow, Cryptorchidism, Micropenis, C...	OMIM:615547
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Hepatosplenomegaly, Myopathy, Hepatomegaly, Weight loss, Oligozoospermia, Abnormal ...	ORPHA:85450
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, EMG: myopathic abnormalities, Hyperlordosis, Scapular...	OMIM:255200
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis, Cerebellar vermis atrophy, Decreased testicular size, Hypogonadism, Distal lower limb a...	OMIM:300354
Orthostatic Hypotension 2	Anemia	OMIM:618182
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Pili Torti	Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Pili torti, Brittle hai...	ORPHA:2889
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Long eyelashes, Low posterior hairline, Optic disc pallor, H...	OMIM:617523
Pachydermoperiostosis	Gastrointestinal hemorrhage, Peptic ulcer, Limitation of joint mobility, Abnormal fingernail morp...	ORPHA:2796
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal hair morphology, Abno...	ORPHA:3082
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Small scrotum, Sparse lateral eyebrow, Dystrophic toenail, Abnor...	ORPHA:3253
Fanconi Anemia	Cryptorchidism, Weight loss, Atrial septal defect, Hypospadias, Decreased fertility in males, Abn...	ORPHA:84
Xp21 Deletion Syndrome	Decreased muscle mass, Recurrent otitis media, Adrenal insufficiency, Primary adrenal insufficien...	ORPHA:261476
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Gm1 Gangliosidosis	Low-set ears, Hepatosplenomegaly, Abnormal scrotum morphology, Generalized hirsutism, Weight loss...	ORPHA:354
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Ingui...	ORPHA:1901
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Narrow palate, Hearin...	ORPHA:61
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Keloids, Sparse body hair, Congenital onychodystrophy, Nail dystr...	ORPHA:2890
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute myeloid leukemia...	OMIM:305000
Geroderma Osteodysplastica	Platyspondyly, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Joint hypermobi...	ORPHA:2078
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:277580
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm...	ORPHA:2198
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Abnormal hair morphology, Inc...	OMIM:231070
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ...	OMIM:248800
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Myopathy, Sensorineural hearing impairment, Absent brainstem auditory responses, L...	ORPHA:1215
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Alopecia, Central hypothyroidism, Decreased serum testos...	ORPHA:453533
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Alopecia, Graves disease, Hypogonadism, Abnormality of the thyroid glan...	ORPHA:3143
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Huntington Disease-Like 2	Cerebral cortical atrophy, Caudate atrophy, Weight loss	ORPHA:98934
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Abnormal earlobe morphology, Camptodactyly of finger, Hypogonadism, Decrease...	ORPHA:85293
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:620532
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel mor...	ORPHA:1133
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Abnormal heart morphology, Alopecia, Hypopigmentation of hair	ORPHA:1067
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Rhyns Syndrome	Osteopenia, Conductive hearing impairment, Decreased response to growth hormone stimulation test,...	OMIM:602152
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity, Foot dorsiflexor weakness, Premature ovarian insufficiency, Scoliosis, Kyphosis	OMIM:618124
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Mitral valve prolapse, Low posterior hairline, Bicuspid aortic v...	OMIM:245600
Squalene Synthase Deficiency	Low-set ears, Hypospadias, Bilateral cryptorchidism, Elbow flexion contracture, Failure to thrive...	OMIM:618156
Progressive Pseudorheumatoid Arthropathy Of Childhood	Platyspondyly, Joint contracture of the hand, Limitation of joint mobility, Vertebral wedging, Ab...	ORPHA:1159
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Decreased erythrocyte fructose-1,6-bisphosphate ...	OMIM:611881
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Elevated circulating parathyroid hormone level, Ricket...	OMIM:600785
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Keloids, Cryptorchidism, Oligozoospermia, Torticollis	OMIM:314300
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:610532
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Alopecia, Coronal craniosynostosis, Fine hair, Hypogonadism, Cryptorchidism	ORPHA:228390
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Frontal balding, Hypogonadism, Type II diabetes mellitus, Weaknes...	OMIM:602668
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Alopecia, Hypospadias, Bilateral cryptorchidism	OMIM:618840
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Osteomyelitis, Hepatomegaly, Arthritis, Hypochromic microcytic anemia, Septic ...	OMIM:619423
Degcags Syndrome	Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Cryptorchidism, Ventricular septal d...	OMIM:619488
Rhizomelic Chondrodysplasia Punctata	Alopecia, Limitation of joint mobility, Sparse body hair, Epiphyseal stippling, Spina bifida occu...	ORPHA:177
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Female hypogonadism, Male hypogonadism, Cholelithiasis, Type I di...	OMIM:240300
Waardenburg Syndrome	Conductive hearing impairment, Hearing impairment, Hypopigmented skin patches, Premature graying ...	ORPHA:3440
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Iron deficiency anemia	ORPHA:89937
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Joint stiffness, Cachexia, Sensorineural hearing impairment	ORPHA:1144
Intellectual Developmental Disorder, Autosomal Dominant 26	Low-set ears, Highly arched eyebrow, Small for gestational age, Thick eyebrow, Scoliosis, Arthrog...	OMIM:615834
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankle flexion contracture, Osteopenia, Interphalangeal joint contracture of finger, Carpal osteol...	OMIM:259600
Bleeding Disorder, Platelet-Type, 21	Menorrhagia, Alopecia, Thrombocytopenia, Increased mean platelet volume	OMIM:617443
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Low-set ears, Osteopenia, Global brain atrophy, Cerebral atrophy, Failure to thrive in infancy, H...	OMIM:616801
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Nail-Patella Syndrome	Toenail dysplasia, Decreased muscle mass, Contracture of the distal interphalangeal joint of the ...	ORPHA:2614
Hypomelanosis Of Ito	Alopecia, Scoliosis, Kyphosis	OMIM:300337
Porphyria, Congenital Erythropoietic	Osteopenia, Alopecia, Joint contracture of the hand, Atypical scarring of skin, Cholelithiasis, H...	OMIM:263700
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hearing impairment, Campto...	ORPHA:628
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia	OMIM:616100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Type I diabetes mellitus, Failure to thrive in infancy, Osteomyelitis, Nail dystrophy, ...	ORPHA:37042
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor...	ORPHA:75566
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:88
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypothyroidism, ...	ORPHA:1882
Cardiofaciocutaneous Syndrome 3	Failure to thrive, Hypertrophic cardiomyopathy, Reduced bone mineral density, Ventricular septal ...	OMIM:615279
Mucolipidosis Type Iii Alpha/Beta	Conductive hearing impairment, Recurrent otitis media, Joint stiffness, Diastasis recti, Right ve...	ORPHA:423461
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, E...	OMIM:304790
Insulin Autoimmune Syndrome	Insulin-resistant diabetes mellitus, Increased circulating antibody level, Weight loss, Hyperinsu...	ORPHA:411593
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Cerebellar atrophy, Hearing impairment, Abnormal autonomic nervous system physiolo...	OMIM:610743
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Camptodactyly of finger, Nail dysplasia	OMIM:212360
Desbuquois Dysplasia 1	Platyspondyly, Advanced tarsal ossification, Obesity, Joint hypermobility, Short neck, Hyperlordo...	OMIM:251450
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Hypospadias, Low anterior hairline, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimp...	OMIM:615761
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Atrophic scars, ...	OMIM:130060
Baralle-Macken Syndrome	High, narrow palate, Global brain atrophy, Obesity, Hirsutism, Cafe-au-lait spot, Kyphosis	OMIM:619255
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hearing impairment, Failure to thrive, Increased bone mineral density, Recurrent frac...	OMIM:239000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Limitation of join...	ORPHA:95699
Omenn Syndrome	Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatome...	ORPHA:39041
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype...	ORPHA:96253
Gaucher Disease Type 1	Splenic infarction, Osteopenia, Cholelithiasis, Pathologic fracture, Hepatosplenomegaly, Pancytop...	ORPHA:77259
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Lymph...	ORPHA:2686
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Abnormal motor evoked potentials, Optic disc pallor, Optic neuropathy, Oste...	ORPHA:909
Cdkl5-Deficiency Disorder	Multifocal epileptiform discharges, Scoliosis, Kyphosis, Synophrys	ORPHA:505652
Bresek Syndrome	Alopecia, Decreased testicular size, Cryptorchidism, Hemivertebrae, Scoliosis	ORPHA:85284
Bloom Syndrome	Azoospermia, Decreased proportion of CD4-positive T cells, Sparse eyelashes, Abnormal proportion ...	ORPHA:125
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Hypoplastic sacrum, Small nail, Failure to thrive, Breast hypoplasia, Nail dysplasia,...	OMIM:614813
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Kyphoscoliosis	OMIM:300886
Mandibuloacral Dysplasia	Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa...	ORPHA:2457
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Osteopenia, Decreased muscle mass, Elbow flexion contracture, Muscle fiber a...	ORPHA:1900
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Osteoporosis, Failure to thrive, Sensorineural hearing impairment	OMIM:266510
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Brittle Cornea Syndrome	Conductive hearing impairment, Increased susceptibility to fractures, Abnormality of hair pigment...	ORPHA:90354
Analbuminemia	Osteoporosis, Lipodystrophy	OMIM:616000
Piebaldism	Hearing impairment, Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglionic...	ORPHA:2884
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Hepatomegaly, Osteoporosis,...	ORPHA:98848
Klippel-Trénaunay Syndrome	Microcytic anemia	ORPHA:90308
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Thrombocytosis	OMIM:226300
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, External genital hypoplasia, Obesity, Hypogo...	ORPHA:177910
Odontochondrodysplasia 1	Platyspondyly, Dentinogenesis imperfecta, Biconvex vertebral bodies, Joint hypermobility, Osteopo...	OMIM:184260
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia	ORPHA:169160
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
19P13.12 Microdeletion Syndrome	Low-set ears, Hypospadias, Precocious puberty, Conductive hearing impairment, Arthrogryposis mult...	ORPHA:254346
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Megaloblastic anemia, Neutropenia	ORPHA:79282
Von Willebrand Disease	Microcytic anemia, Thrombocytopenia	ORPHA:903
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Mitochondrial hypertrophy, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased ac...	OMIM:500013
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Cholelithiasis, Normochromic anemia	OMIM:618775
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Decreased body weight, Hepa...	ORPHA:1667
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Hearing impairment, Lower limb muscle weakness, Cerebral atrophy, Limb muscle...	OMIM:614409
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp, Scarring	ORPHA:346
Alstrom Syndrome	Irregular menstruation, Alopecia, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, De...	OMIM:203800
Pelizaeus-Merzbacher Disease	Optic atrophy, Cerebral cortical atrophy, Hearing impairment, Failure to thrive in infancy, Joint...	ORPHA:702
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori...	OMIM:193510
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Classic Mycosis Fungoides	Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Abnormality of the nail	ORPHA:2584
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bon...	ORPHA:2114
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism	OMIM:618512
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Hypopigmented skin patches, Carpal synostosis, Camptodactyly of fi...	OMIM:148820
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Hypothyroidism, Hypochromic microcytic anemia, Anemia, Small for gestational a...	OMIM:619147
Spastic Paraplegia 53, Autosomal Recessive	Upper limb hypertonia, Hypertrichosis, Joint hypermobility, Kyphosis, Lower limb hypertonia	OMIM:614898
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased...	ORPHA:263297
Felty Syndrome	Bone marrow hypocellularity, Irregular hyperpigmentation, Limitation of joint mobility, Osteolysi...	ORPHA:47612
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Joint hypermobility, Eosinophilia, Atrial septal defect, Spinal canal st...	OMIM:618282
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia	OMIM:530000
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decre...	OMIM:608612
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Osteogenesis Imperfecta, Type Iii	Hearing impairment, Recurrent fractures, Bowing of limbs due to multiple fractures, Biconcave ver...	OMIM:259420
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Scapular mu...	OMIM:181405
Cleidocranial Dysplasia	High, narrow palate, Hearing impairment, Dystrophic toenail, Recurrent fractures, Hearing abnorma...	ORPHA:1452
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Failure to thrive, Kyphosis, Facial myokymia	OMIM:620007
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased testicul...	ORPHA:293967
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Small nail, Inguinal hernia, Cryptorchidism, Ventricular septal defect, Absent eyelashe...	ORPHA:166035
Trisomy 20P	Abnormal antihelix morphology, Cryptorchidism, Low posterior hairline, Short neck, Hypospadias, M...	ORPHA:261318
Neuropathy, Congenital Hypomyelinating, 3	Low-set ears, Narrow palate, Gastroesophageal reflux, Decreased motor nerve conduction velocity, ...	OMIM:618186
Encephalocraniocutaneous Lipomatosis	Alopecia, Subcutaneous lipoma, Cryptorchidism, Ventricular septal defect, Subvalvular aortic sten...	OMIM:613001
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Alopecia, Distal amyotrophy, Hypogonadism, Delayed menarche, Type II di...	ORPHA:412057
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ...	OMIM:619040
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Eosinophilic Fasciitis	Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We...	ORPHA:3165
Jaberi-Elahi Syndrome	Low-set ears, Optic atrophy, Sparse eyebrow, Failure to thrive, Fine hair, Cerebellar vermis atro...	OMIM:617988
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Hypertrichosis, Hypertrophic cardiomyopathy, Abnormal heart valve morphol...	OMIM:230500
Galactose Epimerase Deficiency	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:79238
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Supernumerary nipple, Hypoplastic labia minora, Abnormal scrotum ...	ORPHA:64755
Wieacker-Wolff Syndrome	Low-set ears, High anterior hairline, Distal amyotrophy, Arthrogryposis multiplex congenita, Cere...	OMIM:314580
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia	ORPHA:935
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Silver-Russell Syndrome	Low-set ears, Premature adrenarche, Hypospadias, Gastroesophageal reflux, Precocious puberty, Abn...	ORPHA:813
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Alopecia, Nail dystrophy	ORPHA:79397
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Ventricular septal defect, Abnormality of the anterior pit...	ORPHA:75389
Pendred Syndrome	Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin...	OMIM:274600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Radioulnar synostosis, Beaking of vertebral bodies, Torti...	ORPHA:536467
Emanuel Syndrome	Low-set ears, Gastroesophageal reflux, Hearing impairment, Cerebral atrophy, Macrotia, Recurrent ...	OMIM:609029
Cockayne Syndrome A	Dry hair, Limitation of joint mobility, Cryptorchidism, Hip contracture, Sensorineural hearing im...	OMIM:216400
Oculocerebrocutaneous Syndrome	Alopecia, Cryptorchidism	OMIM:164180
Mgat2-Cdg	Decreased circulating IgG level, Osteopenia, Gastroesophageal reflux, Prominent antihelix, Failur...	ORPHA:79329
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Obesity, Type II diabetes mellitus, Inguinal hernia, Short neck, Subv...	ORPHA:3191
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Abnorm...	ORPHA:370348
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit...	OMIM:602541
Chromosome 3Q13.31 Deletion Syndrome	Low-set ears, Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, High palate, ...	OMIM:615433
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Male hypogonadism, Foot joint contracture, Hearing impairm...	ORPHA:90321
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Vertigo, Leukocytosis, Splenomegaly, Sensorineural h...	ORPHA:3226
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormality of the vertebral column, Limitation of joint mobility, Crani...	ORPHA:1328
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Aortic valve stenosis, Sparse scalp hair, Cryptorchidism, Radiouln...	ORPHA:536471
Mucopolysaccharidosis, Type Iiib	Coarse hair, Dense calvaria, Joint stiffness, Splenomegaly, Hirsutism, Cardiomegaly, Ovoid thorac...	OMIM:252920
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Cachexia, Weight loss, Testicular neoplasm, Anemia, Ovarian neoplasm, Neoplasm of t...	ORPHA:83469
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Umbilical hernia, Foot dorsiflexor weakness, Ventricular sept...	OMIM:169400
Usher Syndrome Type 1	Iris hypopigmentation, Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing ...	ORPHA:231169
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	EEG with abnormally slow frequencies, Gastroesophageal reflux, Failure to thrive, Abnormal reprod...	ORPHA:70472
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Hyperechogenic pancreas, Neutropenia	OMIM:617941
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Bifid scrotum, Failure to thrive, Sparse...	ORPHA:217346
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroesophageal reflux, Cerebellar atrophy, Hearing impairment, Quadriceps muscle weakness, Shou...	ORPHA:254892
Takayasu Arteritis	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Abnormal aortic valve morphology, A...	ORPHA:3287
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelitis, Weight loss, Thrombocyt...	OMIM:209950
Secondary Short Bowel Syndrome	Central hypothyroidism, Volvulus, Failure to thrive, Villous atrophy, Abnormal small intestine mo...	ORPHA:95427
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	ORPHA:171436
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Inflammation of the large intestine, Craniofacial osteosclerosis, ...	ORPHA:324964
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair	ORPHA:69735
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Optic atrophy, Highly arched eyebrow, High anterior hairline, Hypo...	ORPHA:280
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis	ORPHA:85193
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, ...	OMIM:248370
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly...	ORPHA:79124
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Primrose Syndrome	Hearing impairment, Sparse body hair, Neurodegeneration, Cryptorchidism, Hip contracture, Absent ...	OMIM:259050
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Kury-Isidor Syndrome	Alopecia, Hypertrichosis, Ventricular septal defect, Short neck, Scoliosis, Sacral dimple	OMIM:619762
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Osteopenia, Alopecia, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Crypt...	ORPHA:536532
Micro Syndrome	Optic atrophy, Cerebral cortical atrophy, Hypoplasia of penis, Low-set, posteriorly rotated ears,...	ORPHA:2510
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Alopecia, Absence of subcutaneous fat, Osteolysis	OMIM:176670
Adrenoleukodystrophy	Alopecia, Lower limb muscle weakness, Hypogonadism, Primary adrenal insufficiency, Impotence	OMIM:300100
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Decreased activity of mitochondrial complex IV, Failure to thrive	OMIM:612075
Fibrodysplasia Ossificans Progressiva	Alopecia, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive c...	OMIM:135100
Stuve-Wiedemann Syndrome 1	Low-set ears, Blotching pigmentation of the skin, Smooth tongue, Pathologic fracture, Elbow flexi...	OMIM:601559
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology, Generalized amyotrophy	ORPHA:275872
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen...	OMIM:557000
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hemophagocytosis, Fine hair, Failure to thrive, Leukopenia, Splenomegaly...	OMIM:222700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf m...	OMIM:607155
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Ring Chromosome 22 Syndrome	Azoospermia, Toenail dysplasia, Thick eyebrow	ORPHA:1446
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Lymphadenopathy, Thrombocytopenia, An...	OMIM:610377
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Onycholysis, Weight loss, Increased circul...	OMIM:275000
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hearing impairment, Macr...	OMIM:151800
Mycetoma	Abnormal form of the vertebral bodies, Painless fractures due to injury, Pathologic fracture, Ost...	ORPHA:2583
Arthrogryposis, Distal, Type 5	Firm muscles, Decreased muscle mass, Abnormality of retinal pigmentation, Protruding ear, Limited...	OMIM:108145
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Cholelithiasis, Cerebellar atrophy, Lower limb muscle weakness, Cerebral at...	OMIM:213700
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of finger, Ab...	ORPHA:2311
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Monosomy 22	Contractures of the large joints, Hepatosplenomegaly, Aplasia of the thymus, Short neck, Hypochro...	ORPHA:96123
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Skeletal muscle atrophy, Splenomegaly, Diffuse cerebral atrophy, Anterior beaking ...	OMIM:230650
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Ruvalcaba Syndrome	Limited elbow extension, Inguinal hernia, Cryptorchidism, Delayed puberty, Scoliosis, Kyphosis	OMIM:180870
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal vertebral morphology, Alopecia, Supernumerary nipple, Truncal obesity, Hypospadias	ORPHA:3224
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Cerebral cortical atrophy, Ora...	ORPHA:3322
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre...	OMIM:613179
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Hydrocele testis, Ab...	OMIM:607823
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Knee flexion contracture...	ORPHA:3208
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Conductive hearing impairment, Multiple lentigines, Localized osteo...	ORPHA:66627
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Leigh Syndrome	Alopecia, Skeletal muscle atrophy, Failure to thrive, Hypertrichosis, Hypertrophic cardiomyopathy...	ORPHA:506
Chronic Hiccup	Weight loss, Abnormality of the diaphragm	ORPHA:396
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Tetrasomy 12P	Sparse eyebrow, Joint hypermobility, Short neck, Hypohidrosis, Cachexia, Abnormal soft palate mor...	ORPHA:884
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Ogden Syndrome	Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septal defec...	OMIM:300855
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Abnormal dental enamel morpholo...	ORPHA:221008
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Alopecia, Osteopenia, Insulin-resistant diabetes mellitus, Decreased r...	ORPHA:3464
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Leukocytosi...	OMIM:259720
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Hearing impairment, Weight loss, Pancreatitis, Acholic stools, Hepatocellular car...	ORPHA:65682
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype...	ORPHA:99889
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Sparse eyebrow, Small for gestational age, Aplas...	ORPHA:2909
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Decreased testicular size, Patchy alopecia, Cryptorchidism, Camptodactyly of finger	ORPHA:85279
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mitochondrial swellin...	ORPHA:397744
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Harrod Syndrome	Cerebral cortical atrophy, Hypospadias, Hypopigmented skin patches, Failure to thrive, Cryptorchi...	ORPHA:2115
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogonadism, Osteolysis, Hip co...	ORPHA:3042
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Synostosis of carpal bones, Limitation of joint mobility, Osteoarthritis, Osteopor...	ORPHA:93351
Koolen-De Vries Syndrome	High, narrow palate, Narrow palate, Hypospadias, Overfolded helix, Cryptorchidism, Vertebral segm...	ORPHA:96169
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Distal amyotrophy, Hyperhidrosis, Optic disc pallor, Flexion contracture, Scoliosi...	OMIM:609541
Amish Lethal Microcephaly	Optic atrophy, Limitation of joint mobility, Cleft soft palate, Decreased skull ossification, Lim...	ORPHA:99742
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Kyphosis, Joint stiffness, Abnormality of retinal pig...	ORPHA:394
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a...	OMIM:214500
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:86893
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Decreased muscle mass, Hearing abnormality, Kyphoscoliosis, Joint hypermobility, O...	OMIM:616507
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99228
Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99226
Turner Syndrome	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:881
Usher Syndrome Type 3	Iris hypopigmentation, Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearin...	ORPHA:231183
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Type I diabetes mellitus, Hypoplasia of the odontoid process, Insulin-resistant di...	OMIM:226980
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating ACTH l...	ORPHA:100075
Cystic Echinococcosis	Abnormality of the testis size, Abnormality of the vertebral column, Abnormal heart morphology, S...	ORPHA:400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Abnormal auditory evoked potentials, Abnormality of the vertebral col...	OMIM:109120
Lateral Meningocele Syndrome	Low-set ears, Craniofacial hyperostosis, High, narrow palate, Conductive hearing impairment, Abno...	ORPHA:2789
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Primary Intestinal Lymphangiectasia	Anemia, Lymphopenia, Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ eff...	ORPHA:90362
Lateral Meningocele Syndrome	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Coarse hair,...	OMIM:130720
Mast Cell Sarcoma	Mastocytosis, Hypoplasia of the ear cartilage, Weight loss, Splenomegaly	ORPHA:66661
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Failure to thrive, Brittle hair	ORPHA:50812
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Sensorineural ...	OMIM:601812
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Gastroesophageal reflu...	ORPHA:206436
Trisomy 13	Low-set ears, Optic atrophy, Abnormal helix morphology, High, narrow palate, Abnormal morphology ...	ORPHA:3378
Alexander Disease Type I	Cerebellar atrophy, Failure to thrive, Cachexia, Dysphagia, Scoliosis	ORPHA:363717
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Highly arched eyebrow, Hearing impairment, Camptodactyly of finger, Supernumerary n...	OMIM:619951
Non-Functioning Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Weight loss, Paroxysmal vertigo, Paraga...	ORPHA:94080
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal form of the vertebral bodies, Abnormal antihelix mor...	ORPHA:2916
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased bod...	OMIM:615468
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Smooth tongue, Camptodactyly of finger, Elbow flexion c...	ORPHA:3206
Distal Deletion 19P	Alopecia, Keloids, Umbilical hernia, Thick eyebrow, Ventricular septal defect, Joint hypermobilit...	ORPHA:96129
Fucosidosis	Kyphosis, Failure to thrive, Decreased muscle mass, Cardiomegaly, Hepatomegaly, Hypothyroidism, A...	ORPHA:349
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration, Proximal amyotrophy, Spinocerebellar at...	ORPHA:95433
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Low-set ears, Abnormality of chromosome stability, Aplastic anemia...	OMIM:300514
Dpagt1-Cdg	Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, Hearing impairment, Failure to th...	ORPHA:86309
Peritoneal Cystic Mesothelioma	Weight loss, Dyspareunia, Metrorrhagia, Menorrhagia	ORPHA:168816
Clark-Baraitser syndrome	Obesity, Joint hypermobility, Macroorchidism, Scoliosis, Kyphosis	OMIM:300602
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Fine hair, Abnormal morphology of female internal genitalia	ORPHA:1839
Dyskeratosis Congenita, Digenic	Alopecia, Failure to thrive, Decreased testicular size, Nail dystrophy, Sparse eyelashes, Anemia	OMIM:620040
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Long eyelashes, Biconcave vertebral bodies, Joint hypermobility, Thin bony cort...	OMIM:617952
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Osteopenia, Alopecia, Hypophosphatemic rickets, Kyphoscoliosis, Recurrent fra...	OMIM:163200
4Q21 Microdeletion Syndrome	Low-set ears, Hearing impairment, Long eyelashes, Generalized hirsutism, Short neck, Scoliosis, K...	ORPHA:238750
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Alopecia, Synostosis of carpal bones, Low-set, posteriorly rotated ear...	ORPHA:1005
Short Syndrome	Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Joint hypermobility, Lipodystrophy,...	ORPHA:3163
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Bilateral cryptorchidism, Sacral dimple, Large for gestatio...	ORPHA:544488
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Limitation of joint mobility, Kyphosis, Scoliosis, Congenital foot contractures	ORPHA:3454
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Alopecia, Hematochezia, Xerostomia, Gastrointestinal carcinoma, Nail ...	OMIM:175500
Isolated Sedoheptulokinase Deficiency	Diastasis recti, Inguinal hernia, Hypochromic microcytic anemia, Anemia, Flexion contracture, Art...	ORPHA:440713
Frank-Ter Haar Syndrome	Umbilical hernia, Camptodactyly of finger, Osteolysis, Joint stiffness, Inguinal hernia, Mitral v...	ORPHA:137834
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Hatipoglu Immunodeficiency Syndrome	Hyperpigmented/hypopigmented macules, Fair hair, Failure to thrive, Premature graying of hair, Re...	OMIM:620331
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, High, narrow palate, Aplasia/Hypoplasia of the...	ORPHA:193
Mucopolysaccharidosis, Type Ii	Hearing impairment, Intestinal pseudo-obstruction, Hypertrichosis, Recurrent otitis media, Neurod...	OMIM:309900
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Wieacker-Wolff Syndrome, Female-Restricted	Low-set ears, Brain atrophy, Hip contracture, Weakness of facial musculature, Limited shoulder mo...	OMIM:301041
Mucolipidosis Type Ii	Dry hair, Limitation of joint mobility, White hair, Hepatosplenomegaly, Hip contracture, Abnormal...	ORPHA:576
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Aortic valve calcification, Cholelithiasis, Bacterial endocarditis, Abnor...	ORPHA:2072
Koolen-De Vries Syndrome	Cryptorchidism, High palate, Patent ductus arteriosus, Macrotia, Small for gestational age, Cleft...	OMIM:610443
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, N...	OMIM:605676
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, EEG abnormality, Hypopigmentation o...	ORPHA:411515
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Cockayne Syndrome Type 2	Male hypogonadism, Cryptorchidism, Scarring, Enamel hypoplasia, Limb hypertonia, Hepatomegaly, Fl...	ORPHA:90322
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Highly arched eyebrow, Cerebral atrophy, Cryptorchidism, Low anterior hairline, Hir...	OMIM:619244
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Puberty and gonadal disorders, Obesity, Sensorineural hearing impairment, Scoli...	ORPHA:464282
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, O...	ORPHA:91355
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Osteopenia, Atlantoaxial instability, Congenital kyphoscoliosis, Hearing impairment...	ORPHA:536545
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Weight loss...	ORPHA:507
2P15P16.1 Microdeletion Syndrome	Low-set ears, Optic atrophy, Sparse eyebrow, Hearing impairment, Fine hair, Camptodactyly of fing...	ORPHA:261349
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebral cortical atrophy, Kyphosis, Arthrogryposis multiplex congenita, Skeletal muscle atrophy,...	OMIM:618291
Cowden Syndrome 5	Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Ovarian cyst, ...	OMIM:615108
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Platyspondyly, Sparse scalp hair, Short nail, Carpal synostosis, Pathologic fracture, Kyphoscolio...	OMIM:271640
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Low-set ears, Short neck, Hyperlordosis, Hypospadias, Kyphosis,...	ORPHA:2522
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight...	ORPHA:1164
Marshall-Smith Syndrome	Optic atrophy, Conductive hearing impairment, Failure to thrive, Reduced bone mineral density, In...	ORPHA:561
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Brain a...	ORPHA:97214
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	ORPHA:2298
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Abnormal mitochondrial shape, Skeletal muscle atr...	ORPHA:17
Mirage Syndrome	Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Thrombocytopenia, Anemia, Hyp...	OMIM:617053
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Nijmegen Breakage Syndrome	Acute leukemia, Abnormality of chromosome stability, Skeletal muscle atrophy, Anal stenosis, Abno...	ORPHA:647
Noonan Syndrome 14	Low-set ears, High, narrow palate, Sparse eyebrow, Lymphopenia, Limited elbow extension, Cryptorc...	OMIM:619745
Cowden Syndrome 6	Varicocele, Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Ov...	OMIM:615109
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia, Pineal cyst	OMIM:618885
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Ring Chromosome 10 Syndrome	Low-set ears, Large earlobe, Abnormal antihelix morphology, Aganglionic megacolon, Short neck, Ca...	ORPHA:1438
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Dilated cardiomyopathy, Foot joint contracture, Atrophic scars, Nail dystrophy, Iron ...	ORPHA:79408
Cowden Syndrome 1	Varicocele, Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Hydrocele testis, L...	OMIM:158350
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia, Hemolytic anemia	ORPHA:1572
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Kyphoscoliosis, Short neck, Generalized osteoporosis, Sm...	OMIM:184095
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Scoliosis, Ab...	OMIM:156530
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Hypospadias, Decreased testicular size, Dilatation of the ventricular cavity, Inguinal hernia, Cr...	ORPHA:459070
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ...	OMIM:227010
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Cryptorchidism, Atypical scarring of skin, Inguinal hernia, Arthritis, Anemia, Recu...	ORPHA:534
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr...	OMIM:259440
3C Syndrome	Aortic valve stenosis, Hypospadias, Hypoplastic left heart, Hypoplastic fingernail, Tetralogy of ...	ORPHA:7
Kallmann Syndrome	Abnormal morphology of female internal genitalia, Breast hypoplasia, Hypothalamic gonadotropin-re...	ORPHA:478
Centrifugal Lipodystrophy	Alopecia, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lack of facial subcut...	ORPHA:90156
Lig4 Syndrome	Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Leukocytosis, Cryptorchidism, ...	ORPHA:99812
Marden-Walker Syndrome	Low-set ears, High, narrow palate, Joint contracture of the hand, Hypospadias, Congenital contrac...	OMIM:248700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Thyroiditis, Osteopenia, Failure to thrive, Gout, Increased susceptibilit...	ORPHA:79259
Sialidosis Type 1	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Decreased nerve conduction veloci...	ORPHA:812
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Low-set ears, Abnormal pinna morphology, Intestinal malrotation, Kyphosis	ORPHA:77300
Adrenocortical Carcinoma	Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo...	ORPHA:1501
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Cachexia, Hepatomegaly, D...	ORPHA:42
Rhizomelic Syndrome, Urbach Type	Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Abnormal hair qu...	ORPHA:3098
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Farber Disease	Skeletal muscle atrophy, Failure to thrive, Hepatosplenomegaly, Arthritis, Thrombocytopenia, Anem...	ORPHA:333
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, An...	OMIM:226600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Ab...	ORPHA:90794
Brittle Cornea Syndrome 1	Hearing impairment, Spondylolisthesis, Joint hypermobility, Red hair, Scoliosis	OMIM:229200
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Hypopigmented skin patches, Carpal synostosis, Sen...	ORPHA:53271
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi...	OMIM:616881
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Abnormal large intestinal mucosa morphology, Villous atro...	ORPHA:92050
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Osteootohepatoenteric Syndrome	Hearing impairment, Failure to thrive, Villous atrophy, Increased intestinal transit time, Weight...	OMIM:619377
Adams-Oliver Syndrome	Alopecia, Failure to thrive, Hypoplastic fingernail, Tetralogy of Fallot, Leukopenia, Abnormal pu...	ORPHA:974
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Black pigment gallstones, Prostatitis, Tendon ...	ORPHA:56
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absent eyelashes, Absent eyebrow...	OMIM:137940
Alg1-Cdg	Protein-losing enteropathy, Limitation of joint mobility, Cerebellar atrophy, Cerebral atrophy, A...	ORPHA:79327
Mixed Connective Tissue Disease	Alopecia, Leukopenia, Joint stiffness, Splenomegaly, Myositis, Hepatomegaly, Arthritis, Myocardit...	ORPHA:809
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Flexion contracture, Sparse hair	OMIM:242300
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Cryptorchidism, Joint hypermobility, Micropenis, Uplifted earlobe, Facial hypotoni...	ORPHA:364028
Pituitary Apoplexy	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Decreased resp...	ORPHA:95613
Al Amyloidosis	Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Abnormal heart morphology, Hypertroph...	ORPHA:85443
Pycnodysostosis	Coronal craniosynostosis, Spondylolysis, Abnormality of the nail, Decreased response to growth ho...	ORPHA:763
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Abnormal number of dense granules, Impaired platelet aggregation, A...	OMIM:614072
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow...	ORPHA:163746
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Obesity	OMIM:620195
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Hypospadias, Rectourethral...	OMIM:603116
Ruvalcaba Syndrome	Synostosis of carpal bones, Abnormal vertebral epiphysis morphology, Inguinal hernia, Cryptorchid...	ORPHA:3121
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Failure ...	OMIM:162300
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Gastroesophageal reflux, Decreased muscle mass...	ORPHA:171929
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Weight loss, Osteoporosis	ORPHA:309031
Sézary Syndrome	Alopecia, Skeletal muscle atrophy, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy, ...	ORPHA:3162
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Glass Syndrome	Low-set ears, Long eyelashes, Facial hypotonia, Nail dysplasia, Camptodactyly, Generalized osteop...	OMIM:612313
Glycerol Kinase Deficiency	Low-set ears, Muscular dystrophy, Pathologic fracture, Adrenal insufficiency, Adrenocortical hypo...	OMIM:307030
Dietary Iron Overload Disease	Abnormal thyroid morphology, Increased circulating cortisol level, Abnormal pancreas morphology, ...	ORPHA:139507
Monosomy 18P	Alopecia, Kyphoscoliosis, Low posterior hairline, Short neck, Hypothyroidism	ORPHA:1598
Cardiofacioneurodevelopmental Syndrome	Aplasia/Hypoplasia of the nails, Atrioventricular canal defect, Cryptorchidism, Ventricular septa...	OMIM:619123
Alopecia Totalis	Type I diabetes mellitus, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail p...	ORPHA:700
Immunodeficiency 31C	Osteopenia, Protein-losing enteropathy, Skeletal muscle atrophy, Lymphopenia, Osteomyelitis, Vill...	OMIM:614162
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Nail dystrophy, Patchy alopecia, Enamel hypoplasia, Fragile nails	OMIM:226650
Mitochondrial Complex I Deficiency, Nuclear Type 29	Failure to thrive, Mitochondrial swelling, Abnormal heart morphology, Hypertrophic cardiomyopathy...	OMIM:618250
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Hypoplastic cervical vertebrae, Epiphyseal stippling, Sparse eyelash...	ORPHA:35173
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac...	ORPHA:97289
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Large for gestational age, Sensorineural hea...	ORPHA:314588
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Severe B l...	ORPHA:293978
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, Elbow flexion contracture, Hip contracture, Knee flexion contr...	ORPHA:371364
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly, Arthritis	ORPHA:42642
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Upper limb m...	ORPHA:206443
Genitopalatocardiac Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male pseudohermaphroditism, Gonadal...	ORPHA:2075
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se...	OMIM:241080
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Tongue atrophy, Xerostomia, Skeletal muscle atrophy, Lower l...	ORPHA:803
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Frontal upsweep of hair, Low anterior hairline, Hirsutism, Patent ductus arteriosu...	OMIM:617061
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia...	OMIM:242900
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Bifid uvula, Hypoplasia of the odontoid process, Atlantoaxial instability, Hearing...	OMIM:183900
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Caudate atrophy, Dysphagia, Scol...	OMIM:617435
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Lathosterolosis	Butterfly vertebrae, Ambiguous genitalia, male, Lumbosacral meningocele, Anisopoikilocytosis, Ost...	OMIM:607330
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia, Bilateral cryptorchidism	OMIM:616395
Richards-Rundle Syndrome	Distal amyotrophy, Hearing impairment, Joint stiffness, Reduced bone mineral density, Hypergonado...	ORPHA:1399
Adrenomyodystrophy	Failure to thrive, Generalized hyperpigmentation, Primary adrenal insufficiency, Myopathy, Abnorm...	ORPHA:977
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Abnormal B cell morphology, Cupped ear, Decreased response to growth hormone stimul...	OMIM:618223
Frank-Ter Haar Syndrome	Osteopenia, Secundum atrial septal defect, Cortical irregularity, Anterior concavity of thoracic ...	OMIM:249420
Congenital Erythropoietic Porphyria	Osteopenia, Facial hypertrichosis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomega...	ORPHA:79277
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Joint stiffness, Alopecia totalis, Atypical scarring of skin, Nail dystrophy	ORPHA:1366
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteopenia, Sparse hair, Alopecia, Rickets, Abnormal form of the vertebral bodies, ...	ORPHA:2636
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia	ORPHA:247691
Mucopolysaccharidosis Type 6	Failure to thrive, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Hernia, Short ...	ORPHA:583
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Thanatophoric Dysplasia	Platyspondyly, Low-set ears, Hearing impairment, Joint stiffness, Joint hypermobility, Patent duc...	ORPHA:2655
Holocarboxylase Synthetase Deficiency	Alopecia, Weight loss, Thrombocytopenia	ORPHA:79242
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Weight loss, Abnormal testis morphology, Neutrophilia	ORPHA:54251
Bartsocas-Papas Syndrome	Synostosis of joints, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Ambiguo...	ORPHA:1234
Macrocephaly/Autism Syndrome	Lymphopenia, Hydrocele testis, Splenomegaly	OMIM:605309
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Alopecia universalis, Elevated circulating parathyroid hormone l...	OMIM:277440
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia	OMIM:300972
Osteogenesis Imperfecta	Hearing impairment, Enlarged vertebral pedicles, Intestinal obstruction, Decreased skull ossifica...	ORPHA:666
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ...	OMIM:612843
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:93552
Congenital Disorder Of Deglycosylation 1	Low-set ears, Oral-pharyngeal dysphagia, Decreased body weight, Intrinsic hand muscle atrophy, Hy...	OMIM:615273
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Joint hypermobility, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:619131
Autosomal Recessive Robinow Syndrome	Alopecia, Hypoplastic female external genitalia, Synostosis of carpal bones, Camptodactyly of fin...	ORPHA:1507
Wolman Disease	Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Anemia, Bone-marrow foam ce...	ORPHA:75233
Cystic Fibrosis	Osteopenia, Gastroesophageal reflux, Absent vas deferens, Hearing impairment, Meconium ileus, Dec...	ORPHA:586
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Abnormal dental enamel morphology, Abnormal heart valve mor...	ORPHA:582
Rett Syndrome	Cerebral cortical atrophy, Gastroesophageal reflux, Skeletal muscle atrophy, Cachexia, EEG abnorm...	OMIM:312750
Erdheim-Chester Disease	Abnormal pericardium morphology, Osteomyelitis, Abnormal aortic valve morphology, Hypogonadotropi...	ORPHA:35687
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Hypohidrosis, Hyperhidrosis, High palate, ...	ORPHA:1545
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormality of the spleen, Abnormal lower motor neuron mor...	ORPHA:93941
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Splenomegaly, Hepatomegaly, Short neck, Lipodystrophy, Atrial septal defect, P...	OMIM:608776
Huntington Disease-Like 2	Cerebral cortical atrophy, Weight loss	OMIM:606438
Familial Isolated Hyperparathyroidism	Osteopenia, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid adenom...	ORPHA:99879
Hardikar Syndrome	Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral cleft palate, Impaired growth-hor...	OMIM:301068
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, A...	ORPHA:99027
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Contractures of the large joints, Failure to thrive, Low-set, posteriorly rotated ...	ORPHA:521426
Huntington Disease	Degeneration of the striatum, Decreased body mass index, Cerebral atrophy, Oral-pharyngeal dyspha...	ORPHA:399
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia	OMIM:300755
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Failure to thrive, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular sept...	OMIM:617602
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Cryptorchidism, Hand muscle atrophy, Ventricular septal defect, Bicuspid aortic va...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Cryptorchidism, Hand muscle atrophy, Ventricular septal defect, Bicuspid aortic va...	ORPHA:363958
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Failure to thrive, Cardiomyopathy, Abnormal subcutaneous fat tissue distribution, Hep...	OMIM:212065
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia,...	OMIM:615387
Stickler Syndrome, Type I	Platyspondyly, Bifid uvula, Conductive hearing impairment, Joint stiffness, Spondylolisthesis, Su...	OMIM:108300
Giant Cell Arteritis	Optic atrophy, Alopecia, Conductive hearing impairment, Hearing impairment, Vertigo, Gastrointest...	ORPHA:397
Occipital Horn Syndrome	Platyspondyly, Coarse hair, Limited elbow extension, Joint hypermobility, Hiatus hernia, Limited ...	OMIM:304150
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Iron deficiency anem...	OMIM:269200
Fountain Syndrome	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal form of the vertebral b...	ORPHA:3219
3M Syndrome	Hypospadias, Abnormal dental enamel morphology, Thick eyebrow, Increased vertebral height, Decrea...	ORPHA:2616
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abnor...	OMIM:607459
Fumarase Deficiency	Polycythemia, Mitochondrial swelling, Failure to thrive, Reduced subcutaneous adipose tissue, Per...	OMIM:606812
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ...	OMIM:612541
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Weight loss, Neutropenia, Thrombocytopenia,...	ORPHA:520
Glycogen Storage Disease Due To Acid Maltase Deficiency	Failure to thrive, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Cardiomegaly, Hepatom...	ORPHA:365
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Optic atrophy, Cerebral cortical atrophy, Contractures of the large joints, Failure...	OMIM:617527
Somatostatinoma	Pituitary adenoma, Increased circulating cortisol level, Subcutaneous lipoma, Increased circulati...	ORPHA:97283
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Osteomyelitis, Abnormal sensory nerve conduction velocity, Axonal degener...	ORPHA:88628
Reni Syndrome	Lymphopenia, Cryptorchidism	OMIM:617575
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Hyperh...	OMIM:259100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Highly arched eyebrow, Bifid uvula, Intestinal malrotation, Cryptorchidism, Abnorma...	ORPHA:404440
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Sjögren-Larsson Syndrome	Joint stiffness, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Scoliosis, K...	ORPHA:816
Primary Sclerosing Cholangitis	Osteopenia, Cholelithiasis, Type I diabetes mellitus, Celiac disease, Hepatosplenomegaly, Splenom...	ORPHA:171
Occipital Horn Syndrome	Platyspondyly, Synostosis of joints, Osteopenia, Coarse hair, Rickets, High, narrow palate, Gastr...	ORPHA:198
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Toenail dysplasia, Hearing impairment, Oral-pharyngeal dysphagia, Short neck, Promi...	OMIM:300966
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage, Failure to thrive, Corneal scarring, Abs...	OMIM:610965
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620005
Renal Nutcracker Syndrome	Varicocele, Dysmenorrhea, Vulval varicose vein, Weight loss, Dyspareunia, Anemia, Infertility	ORPHA:71273
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl...	ORPHA:300605
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Irregular hyperpigmentation, Skeletal muscle atrophy, Abnormal large intestine mor...	ORPHA:109
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Weight loss, Ulcera...	OMIM:266600
Polymyositis	Chondrocalcinosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitral valve mor...	ORPHA:732
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Osteopenia, High anterior hairline, Increased circulating prolactin concentra...	ORPHA:438213
Hepatoerythropoietic Porphyria	Osteopenia, Facial hypertrichosis, Erythroid hyperplasia, Splenomegaly, Loss of eyelashes, Scarri...	ORPHA:95159
Whipple Disease	Splenomegaly, Myositis, Hepatomegaly, Cachexia, Hypothyroidism, Arthritis, Myocarditis, Anemia, E...	ORPHA:3452
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Enamel hypoplasia, Thick hair, Hepatome...	OMIM:607626
Hurler-Scheie Syndrome	Camptodactyly of finger, Umbilical hernia, Contracture of the distal interphalangeal joint of the...	OMIM:607015
Juvenile Huntington Disease	Cerebellar vermis atrophy, Weight loss, Cerebellar atrophy	ORPHA:248111
Bartsocas-Papas Syndrome 1	Alopecia, Absent external genitalia, Small nail, Hypoplastic male external genitalia, Bilateral c...	OMIM:263650
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Abnormality of the gastroin...	ORPHA:2070
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Microcytic anemia, Flexion contracture of finger, Hepatomegaly, Epidid...	OMIM:256040
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Increased susceptibility to fractures, Weight loss, Optic disc pallor, Dy...	ORPHA:216866
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased pro...	ORPHA:1830
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Esophageal carcinoma, Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Vill...	ORPHA:391487
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Hearing impairment, Recurrent fractures, Reduced bone mineral density, Biconcave fl...	OMIM:166220
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Failure to thrive, Microcytic anemia, Tetralogy of Fallot, Inguinal her...	OMIM:619525
Weismann-Netter Syndrome	Abnormal form of the vertebral bodies, Abnormality of the thyroid gland, Abnormal cortical bone m...	ORPHA:3344
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia, Congenital diaphragmatic hernia, Cryptorchidism	ORPHA:1647
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Weight loss, Diabetes mellitus, Increased hepatitis B virus antibody level	ORPHA:90003
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Small scrotum, Ridged fingernail, Conductive hearing impairment, Ar...	ORPHA:2215
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Cryptorchidism, Spotty hypo...	ORPHA:401973
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Abnormal dental enamel morpholo...	ORPHA:221016
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Hearing impairment, Cervical spinal canal stenos...	ORPHA:15
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Low-set ears, Gastroesophageal reflux, Cerebellar atrophy, Cerebral atrophy, Obesity, Thick eyebr...	OMIM:618443
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, Hypogonadism, W...	OMIM:613266
Bathing Suit Ichthyosis	Alopecia, Sparse hair, Nail dystrophy, Multiple joint contractures	ORPHA:100976
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Umbilical hernia, Large for gestational age, Inguinal hernia, Enlarged kidney, Sacral d...	OMIM:618272
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Cerebral atrophy, Limb hypertonia, EEG abnormality, Dysphagia, Kyphosis	ORPHA:500180
Vici Syndrome	Low-set ears, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Myopathy, Sensori...	OMIM:242840
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, EEG with abnormally slow frequencies, Hypopigmentation of the skin, Obesit...	ORPHA:98794
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis, Enamel ...	OMIM:614564
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ...	OMIM:609734
Williams Syndrome	Synostosis of joints, Type II diabetes mellitus, Cryptorchidism, Myopathy, Polycystic ovaries, Ve...	ORPHA:904
Hurler Syndrome	Hypoplasia of the odontoid process, Cardiomyopathy, Umbilical hernia, Cranial hyperostosis, Hepat...	OMIM:607014
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial sw...	OMIM:615595
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Acroosteolysis of ...	ORPHA:90154
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Skeletal muscle atrophy, Hearing impairment, Hand muscle atrophy, Sensorineural h...	OMIM:211530
Solitary Fibrous Tumor	Uterine neoplasm, Vaginal neoplasm, Hypophosphatemic rickets, Prostate cancer, Low back pain, Wei...	ORPHA:2126
Parathyroid Carcinoma	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancrea...	ORPHA:143
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Alopecia, Sparse eyelashes	OMIM:616367
Focal Dermal Hypoplasia	Alopecia, Coarse metaphyseal trabecularization, Camptodactyly of finger, Umbilical hernia, Abnorm...	ORPHA:2092
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Abnormal T cell count, Absent circulating ...	OMIM:307200
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Scarring	OMIM:247100
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Androgen insufficiency, Vertigo, Increased circulating ACTH...	ORPHA:95409
Avian Influenza	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:454836
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, ...	ORPHA:464
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Hyperhidrosis, Osteolysis	ORPHA:391
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cerebellar atrophy, Splenomegaly, Osteopetrosis, Hypopigmentation o...	OMIM:618541
Ramon Syndrome	Pigmentary retinopathy, Hearing impairment, Hypertrichosis, Enlarged labia minora, Decreased body...	OMIM:266270
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Weight loss, Thrombocytopenia	ORPHA:69077
Alexander Disease	Precocious puberty, Osteopenia, Failure to thrive, Short neck, Hypothyroidism, Hyperlordosis, Hyp...	ORPHA:58
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Small nail, Abnormal hair morphology, External genital hypoplasia, Thin nail	OMIM:242100
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Skeletal muscle atrophy, Dysphagia, Facial palsy, Arthrogryposis multiplex congenita, ...	OMIM:617143
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Small for gestational age...	ORPHA:93360
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Sensorineural hearing impairment, Protruding ear, Joint hypermobility, Hypothyroidism...	ORPHA:2479
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Failure to thrive, Sparse eyelashes	OMIM:610768
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Hearing impairment, Intestinal obstruction, Tinnitus, Gastrointestin...	ORPHA:97286
Adams-Oliver Syndrome 2	Alopecia, Limb hypertonia, Small nail, Low anterior hairline	OMIM:614219
Trisomy 9P	Macrotia, Hypoplastic fingernail, Fingernail dysplasia, Hypoplastic toenails, Protruding ear, Sho...	ORPHA:236
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Primary Biliary Cholangitis	Celiac disease, Abnormality of the thyroid gland, Splenomegaly, Increased circulating IgA level, ...	ORPHA:186
Spinocerebellar Ataxia 48	Cachexia, Cerebellar atrophy, Dysphagia	OMIM:618093
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Obesity, Kyphosis, Low anterior hairline	ORPHA:261222
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Chronic noninfectious lymphadenopathy, Lymphopenia, Hypersplenism, D...	ORPHA:3261
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology,...	ORPHA:221098
Mucolipidosis Iii Gamma	Aortic valve stenosis, Joint stiffness, Claw hand deformity, Short neck, Hyperlordosis, Finger jo...	OMIM:252605
Keutel Syndrome	Alopecia, Ventricular septal defect	ORPHA:85202
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Brain abscess, Liver abscess	ORPHA:2038
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Upper limb muscle weakness, Lower lim...	ORPHA:206448
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail, Failure to thrive	ORPHA:79394
Alveolar Echinococcosis	Abnormal vertebral morphology, Abnormal pericardium morphology, Abnormal skeletal muscle morpholo...	ORPHA:284
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Failure to thrive, Decreased testicular size, Thick eyebrow, Distal lower limb am...	OMIM:300534
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Distal amyotrophy, Intestinal pseudo-obstruction, Slender build, Ragged-red ...	OMIM:603041
Alopecia Universalis	Alopecia universalis, Type I diabetes mellitus, Abnormality of the thyroid gland, Absent eyelashe...	ORPHA:701
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Ap...	OMIM:611584
Syndromic Diarrhea	Small for gestational age, Panhypogammaglobulinemia, Trichorrhexis nodosa, Lymphopenia, Villous a...	ORPHA:84064
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Optic atrophy, Craniofacial osteosclerosis, Increased sk...	OMIM:618476
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Anemia, Leukocytosis, Neutrophilia	ORPHA:99843
Developmental Malformations-Deafness-Dystonia Syndrome	Sensorineural hearing impairment, Achalasia, Dysphagia, Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Autosomal Dominant Robinow Syndrome	Onychogryposis of fingernail, Cryptorchidism, Short neck, Hypoplastic labia majora, Hypospadias, ...	ORPHA:3107
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Hearing impairment, Joint hypermobility, Patent duct...	ORPHA:93274
Peutz-Jeghers Syndrome	Uterine neoplasm, Ovarian cyst, Iron deficiency anemia, Precocious puberty with Sertoli cell tumo...	OMIM:175200
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed...	ORPHA:93314
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Craniosynostosis, Alopecia	OMIM:601853
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cryptorchidism, Elbow ankylosis, Hypospadias, Epispadias, Abnormal ...	ORPHA:2658
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Exostosis of the external auditory canal, Dysplastic patella, Congenital diaphragma...	OMIM:265000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Hypogonadism, Cryptorchidism, Micropenis, Flexion contracture, Overweight, Sco...	ORPHA:500055
Congenital Fiber-Type Disproportion Myopathy	Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoul...	ORPHA:2020
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Multiple joint contractures, Hyperlordosis, Torticollis, Dysphagia, Facial pa...	OMIM:128100
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Abnormality of thyroid physiology, Abnormal cardiac atrium morphology, Ob...	ORPHA:563
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis	OMIM:618947
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Varicocele, Rheumatoid arthritis, Low back pain, Hashimoto thyroiditis, Weight...	ORPHA:49041
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene...	ORPHA:352731
Anaplastic Thyroid Carcinoma	Goiter, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Tracheoesophageal fist...	ORPHA:142
Weaver Syndrome	Joint contracture of the hand, Fine hair, Hydrocele testis, Melanocytic nevus, Limited elbow exte...	OMIM:277590
Follicular Lymphoma	Weight loss, Splenomegaly	ORPHA:545
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, C...	ORPHA:85451
Brucellosis	Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Hepatomegaly, Endocarditis...	ORPHA:1304
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Myopa...	ORPHA:1876
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the male genitalia, Joint stiffness, Abnormal hemoglobin, Cryptorchidism, Male pse...	ORPHA:847
Huntington Disease-Like 1	Cerebral cortical atrophy, Weight loss, Cerebellar atrophy, EEG abnormality	ORPHA:157941
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Joint stiffness, Knee osteoarthritis, Abnormality of the ...	ORPHA:85408
Ileal Neuroendocrine Tumor	Increased serum serotonin, Iron deficiency anemia, Weight loss, Small intestine carcinoid, Tricus...	ORPHA:100078
Focal Myositis	Myositis, Weight loss, Limitation of joint mobility	ORPHA:48918
Menkes Disease	Sparse hair, Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Tarsa...	ORPHA:565
Wilson Disease	Osteomalacia, Decreased nerve conduction velocity, Limb muscle weakness, Splenomegaly, Joint hype...	OMIM:277900
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Slender build, Reduced bone mineral density, Spondylolisthes...	ORPHA:558
Atypical Rett Syndrome	Functional abnormality of the gastrointestinal tract, EEG abnormality, Abnormal autonomic nervous...	ORPHA:3095
Gitelman Syndrome	Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Failure to thrive, Type II diabetes ...	ORPHA:358
Juvenile Polyposis Of Infancy	Low-set ears, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, Protein-losi...	ORPHA:79076
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Myopath...	ORPHA:1606
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dyspl...	OMIM:158310
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Tracheomalacia, Cerebral atrophy, Failure to thrive, Cerebral cortical neurod...	OMIM:203700
Acrodermatitis Enteropathica	Cerebral cortical atrophy, Alopecia, Ridged fingernail, Failure to thrive, Abnormal eyebrow morph...	ORPHA:37
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Uterine neoplasm, Failure to thrive, Vaginal neoplasm, Abnormal gastroin...	ORPHA:1018
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Hypospadias, Clitoral hypertrophy, Gastroesophageal reflux, Cerebral atrophy, Furro...	OMIM:616449
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Cardiomyopathy, Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular l...	ORPHA:98907
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter	OMIM:188580
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Failure to thrive, Atrophic scars, Distal lower limb amyotrophy, Nail dystrophy, Scarri...	ORPHA:79396
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Fatal Familial Insomnia	Weight loss, Hyperhidrosis, Neuronal loss in central nervous system, Abnormal autonomic nervous s...	OMIM:600072
Gapo Syndrome	Alopecia, Sparse eyebrow, Umbilical hernia, Breast hypoplasia, Sparse eyelashes, Joint hypermobil...	OMIM:230740
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Tracheomalacia, Sparse body hair, Cryptorchidism, Sparse eyelashes, Hyp...	ORPHA:2108
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ...	ORPHA:3453
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Myopathy	OMIM:275630
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Intestinal ...	ORPHA:449400
Sporadic Pheochromocytoma/Secreting Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Adrenal pheochromocytoma, Paroxysmal ve...	ORPHA:276621
Legionnaires Disease	Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Lymphadenopathy	ORPHA:549
Primary Sjögren Syndrome	Normocytic anemia, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Abn...	ORPHA:192
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Cardiomyopathy, Absent toenail, Absent eyelashes, Campt...	ORPHA:158687
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Clitoral hypertrophy, Ambiguous genitalia, Failure to thrive	ORPHA:543470
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Myo...	ORPHA:257
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss, Intestinal obstruction	ORPHA:26790
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail, Umbilical hernia, Epiphyseal stippling, Adrenal hypoplasia, Abnormal cardia...	OMIM:308050
Aneurysm-Osteoarthritis Syndrome	Atypical scarring of skin, Umbilical hernia, Camptodactyly of finger, Abnormal heart morphology, ...	ORPHA:284984
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Generalized Pustular Psoriasis	Lymphopenia, Leukocytosis	ORPHA:247353
Aceruloplasminemia	Abnormal pancreas morphology, Refractory anemia, Hypochromic microcytic anemia	ORPHA:48818
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen...	OMIM:613239
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Failure to thrive, Punctate vertebral calcifications, Stippled calcification in c...	OMIM:302960
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Limitation of joint mobility, Breast aplasia, Abnormal eyebrow morphology, Absent eyela...	ORPHA:90153
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Slender build, High palate, Scoliosis, Kyphosis	OMIM:300676
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Streak ovary, Radioulnar s...	ORPHA:798
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Lymphopenia, Cryptorchidism	OMIM:616541
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Kyphosis, Long eyelashes, Cryptorchidism, Decreased body weight, Hepatomeg...	OMIM:619005
Adult-Onset Still Disease	Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Weight loss, Arthritis, Myocarditis, Anem...	ORPHA:829
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Vertigo, Leukocytosis, Splenomegaly, T...	ORPHA:729
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Dilated cardiomyopathy, Failure to thrive, Nail dystrophy, Anonychia, Enamel hypoplasia...	ORPHA:79404
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Failure to thrive	OMIM:616353
Dyrk1A-Related Intellectual Disability Syndrome	Cerebral cortical atrophy, Hypospadias, Gastroesophageal reflux, Small for gestational age, Failu...	ORPHA:464306
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Gastrointest...	ORPHA:330001
Microphthalmia, Lenz Type	Hypospadias, Hearing impairment, Optic disc coloboma, Camptodactyly of finger, Low-set, posterior...	ORPHA:568
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hypermobility, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:2181
Cystinosis, Nephropathic	Myopathy, Weight loss, Dysphagia, Male infertility, Male hypogonadism, Hypopigmentation of the sk...	OMIM:219800
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Brain atrophy...	OMIM:164310
Alg9-Cdg	Hypoplasia of the musculature, Hypertrichosis, Abnormal heart morphology, Hepatomegaly, Ventricul...	ORPHA:79328
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, EEG with focal epileptifo...	ORPHA:98795
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Failure to thrive, Onychogryposis of toenails, Fingernail...	ORPHA:2309
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Protruding tongue, EEG abnormality,...	ORPHA:411511
Seckel Syndrome	Abnormal earlobe morphology, Joint hypermobility, Cachexia, Craniosynostosis, Absent earlobe, Sco...	ORPHA:808
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal osteolysis, ...	ORPHA:2774
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Melanocytic nevus, Abnormality of the thyroid gland, Abnormality of reti...	ORPHA:1969
Rat-Bite Fever	Septic arthritis, Parotitis, Back pain, Oligoarthritis, Weight loss, Arthritis, Myocarditis, Anem...	ORPHA:31205
2Q31.1 Microdeletion Syndrome	Abnormality of the hypothalamus-pituitary axis, Camptodactyly of finger, Abnormal hair morphology...	ORPHA:251014
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Delayed puberty, Neutropen...	OMIM:232220
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, High, narrow palate, Hypopigmented skin patches, Sensorineural hearing imp...	ORPHA:3214
Cranioectodermal Dysplasia 1	Low-set ears, High, narrow palate, Short nail, Fine hair, Joint hypermobility, Protruding ear, Sa...	OMIM:218330
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sparse hair, Failure to thrive, Fragile nails	OMIM:242150
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Joint hypermobility, Pili tor...	OMIM:261990
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis	ORPHA:86884
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Ankylosis, Sparse hair, Osteolysis	ORPHA:659
Glucagonoma	Pituitary adenoma, Increased circulating prolactin concentration, Acanthocytosis, Elevated circul...	ORPHA:97280
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Hypertrichosis, Otitis media, Joint hypermobility, Contracture of the proximal...	OMIM:618050
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Flexion contractu...	OMIM:614594
Pontocerebellar Hypoplasia, Type 17	Gastroesophageal reflux, Kyphosis, Low anterior hairline, Limb hypertonia, Dysphagia, Patent duct...	OMIM:619909
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Menometrorrhagia, Gastrointestinal hemorrhage, Hypopigmentation of the ski...	ORPHA:79430
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Ectopic anterior pituitary gland, Hypopituitarism, Decre...	ORPHA:90695
Vipoma	Pituitary adenoma, Increased circulating prolactin concentration, Elevated circulating growth hor...	ORPHA:97282
Tetrasomy 9P	Umbilical hernia, Abnormal dental enamel morphology, Absent gallbladder, Cryptorchidism, Pilomatr...	ORPHA:3310
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Craniofacial hyperostosis, Alopecia, Tricuspid valve prolapse, Multiple li...	ORPHA:2396
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abn...	ORPHA:99880
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Sparse eyelashes, Craniosy...	OMIM:613451
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular canal defect, Joint stiffness, Ventricular septal defect...	ORPHA:392
Wiedemann-Rautenstrauch Syndrome	Small nail, Reduced subcutaneous adipose tissue, Cryptorchidism, Sparse eyelashes, Absent eyelash...	OMIM:264090
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Scoliosis, Right ventricular dilatation, Myopathy	ORPHA:369847
Cowden Syndrome	Follicular thyroid carcinoma, Hearing impairment, Hypopigmented skin patches, Adenoma sebaceum, H...	ORPHA:201
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Limitation of joint mobility, Ocular albinism, Cryptorchidism, Sensorineur...	ORPHA:2719
Poland Syndrome	Hypospadias, Acute leukemia, Absence of subcutaneous fat, Congenital diaphragmatic hernia, Crypto...	ORPHA:2911
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment	ORPHA:529808
Acro-Renal-Mandibular Syndrome	Uterus didelphys, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Butterfly ...	ORPHA:958
Fliedner-Zweier Syndrome	Cerebellar atrophy, Obesity, Joint hypermobility, Anal atresia, Tracheoesophageal fistula, High p...	OMIM:620511
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Foxg1 Syndrome Due To 14Q12 Microdeletion	Gastroesophageal reflux, Abnormal antihelix morphology, Protruding ear, Macroglossia, Scoliosis, ...	ORPHA:261144
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis	OMIM:601979
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the gastrointestinal tract, Hypermelanotic macule, Weig...	ORPHA:33276
Central Diabetes Insipidus	Diabetes insipidus, Weight loss, Failure to thrive	ORPHA:178029
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypopigmentation of the skin, Sp...	ORPHA:167
Duane Retraction Syndrome	Irregular hyperpigmentation, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hear...	ORPHA:233
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Osteopenia, Muscle fib...	OMIM:182250
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Decreased testicular size, Leukocytosis, Hypoplasia of the ovary, Abdominal obesity, Mi...	OMIM:619321
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Hearing impairment, Anteriorly placed anus, Clitoral hypoplasia, Long eyelashes, Cr...	OMIM:616894
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Cerebral cortical atrophy, Gastroesophageal reflux, Hypospadias, Small...	ORPHA:464311
Lysinuric Protein Intolerance	Osteopenia, Hemophagocytosis, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:470
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmonic stenosis, Hyperexten...	OMIM:609008
Glycogen Storage Disease Ia	Decreased muscle mass, Gout, Pancreatitis, Delayed puberty, Osteoporosis, Hepatocellular carcinoma	OMIM:232200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis,...	OMIM:603387
Cono-Spondylar Dysplasia	Low-set ears, Short nail, Failure to thrive, Short neck, Scoliosis, Kyphosis	ORPHA:420794
Stevens-Johnson Syndrome	Weight loss, Dyspareunia, Abnormal myocardium morphology, Thrombocytopenia, Anemia, Abnormality o...	ORPHA:36426
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	EEG with abnormally slow frequencies, Optic atrophy, Elbow flexion contracture, Obesity, Hip cont...	OMIM:618493
Yao Syndrome	Ventricular hypertrophy, Weight loss, Arthritis, Pericarditis	OMIM:617321
Hereditary Central Diabetes Insipidus	Diabetes insipidus, Weight loss	ORPHA:30925
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl...	ORPHA:1435
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Gastroesophageal reflux, Hypopigmented skin patches, Intesti...	ORPHA:183
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Hearing impairment, Protruding ear, Bilateral camptodactyly, Absent earlobe, Scoliosis, Kyphosis,...	OMIM:619557
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei...	ORPHA:1332
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp...	OMIM:300967
Carney Complex, Type 1	Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular h...	OMIM:160980
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Recurrent otitis media, Sensorineural hearing impairment, ...	OMIM:194050
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Inguinal hernia, Ventricular septal defect, Atrial septal defect, Scoliosis, Kyphosis	ORPHA:261190
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Intervertebral disk degeneration, Mitral valve prolapse, Knee osteoarthr...	OMIM:613795
Marden-Walker Syndrome	Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uv...	ORPHA:2461
Juvenile Dermatomyositis	Alopecia, Limitation of joint mobility, Cardiomyopathy, Myositis, Weight loss, Calcinosis, Arthri...	ORPHA:93672
Bor Syndrome	Atresia of the external auditory canal, Hearing impairment, Enlarged cochlear aqueduct, Stenosis ...	ORPHA:107
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Alopecia, Kyphosis, Abnormality of the vertebral co...	ORPHA:2273
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Familial Colorectal Cancer Type X	Uterine neoplasm, Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, Neoplasm of...	ORPHA:440437
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anoperineal fistula, Osteomalacia, Recurrent otitis media, Weigh...	OMIM:619381
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Abnormal circulating aldosterone, Osteomyelitis, Glucocortocoid-insensitive prima...	ORPHA:171876
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Flexion contracture of digit, Woolly hair	OMIM:619208
Hereditary Pheochromocytoma-Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Adrenal pheochromocytoma, Paroxysmal ve...	ORPHA:29072
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Onycholysis	ORPHA:525
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H...	ORPHA:978
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Pulmonary carcinoid tumor, ...	ORPHA:363618
Polyarteritis Nodosa	Weight loss, Cardiomyopathy, Pericarditis	ORPHA:767
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Failure to thrive,...	ORPHA:238468
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Campomelic Dysplasia	Low-set ears, Hearing impairment, Tracheomalacia, Recurrent fractures, Short neck, Male pseudoher...	ORPHA:140
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Premature adrenarche, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Cry...	OMIM:620450
17Q11 Microdeletion Syndrome	Low-set ears, Osteopenia, Precocious puberty, Elevated circulating parathyroid hormone level, Abn...	ORPHA:97685
Intellectual Developmental Disorder, X-Linked 112	Abnormal heart morphology, Pancreatic cysts, Cryptorchidism, Kyphoscoliosis, Joint hypermobility,...	OMIM:301111
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Thrombocytopenia	ORPHA:90060
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia	OMIM:620654
Neurofibromatosis Type 1	Hearing impairment, Hypopigmented skin patches, Cryptorchidism, Leukemia, Precocious puberty, Ost...	ORPHA:636
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Alopecia	OMIM:600142
Q Fever	Abnormal heart valve morphology, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, W...	ORPHA:781
Phakomatosis Pigmentokeratotica	Precocious puberty, Pheochromocytoma, Hypophosphatemic rickets, Cryptorchidism, Patchy alopecia, ...	ORPHA:2874
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality of the gastrointest...	ORPHA:2902
Acromegaly	Impotence, Long penis, Pituitary prolactin cell adenoma, Abnormal fingernail morphology, Anterior...	ORPHA:963
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism,...	OMIM:203300
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Pancreatic adenocarcinoma, Hepa...	ORPHA:1333
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation	OMIM:614022
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Weight loss, Splenomegaly	ORPHA:33577
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Ventr...	OMIM:106260
Cap Polyposis	Atrophic gastritis, Hematochezia, Weight loss, Colorectal polyposis	ORPHA:160148
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Cerebral cortical atrophy, Bifid uvula, Hypopigmentation of the skin, Decr...	ORPHA:177907
Osteosarcoma	Pathologic fracture, Weight loss, Osteolysis	ORPHA:668
Multiple Myeloma	Osteopenia, Pathologic fracture, Functional abnormality of the gastrointestinal tract, Splenomega...	ORPHA:29073
Somatomammotropinoma	Impotence, Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin ...	ORPHA:314769
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, High anterior hairline, Prominent crus of helix, Elbow flexion contracture, Supernu...	OMIM:619194
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Decreased circulating carnitine concentration, Skeletal muscle atrophy, Failure to thrive	OMIM:210210
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia	ORPHA:51636
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont...	OMIM:177170
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia	ORPHA:228119
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, De...	ORPHA:508533
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Weight loss, Anemia	ORPHA:67
Khan-Khan-Katsanis Syndrome	Anemia, Lymphopenia, Neutropenia	OMIM:618460
Xeroderma Pigmentosum	Craniofacial hyperostosis, Alopecia, Failure to thrive, Hypogonadism, Decreased testicular size, ...	ORPHA:910
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Platyspondyly, Inguinal hernia, Kyphoscoliosis, Joi...	OMIM:225400
Hypercalcemia, Infantile, 1	Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive	OMIM:143880
Mosaic Trisomy 20	Spinal canal stenosis, Cryptorchidism, Abnormal mitral valve morphology, Vertebral segmentation d...	ORPHA:1724
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia, Ileus, Joint hypermobility	ORPHA:52503
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Recurrent fractures, Inguinal hernia, Decre...	OMIM:610915
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Tongue nodules, Hyperconvex nail, Bifid tongue, Kyphosis	OMIM:258850
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Inflammation of the large intestine, Cerebellar atrophy, Lymphopenia, Knee flexion...	OMIM:619708
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I...	ORPHA:79078
Systemic Capillary Leak Syndrome	Myocarditis, Weight loss, Leukocytosis, Pericarditis	ORPHA:188
Zttk Syndrome	Low-set ears, Optic atrophy, Sparse eyebrow, Bifid uvula, Failure to thrive, Absent gallbladder, ...	OMIM:617140
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Cerebellar atrophy, Cerebral atrophy, Pancytopenia, Splenomegal...	OMIM:615846
Marfanoid-Progeroid-Lipodystrophy Syndrome	Generalized lipodystrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Mitr...	OMIM:616914
Parkinson Disease 4, Autosomal Dominant	Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Cockayne Syndrome	Dry hair, Absence of pubertal development, Cryptorchidism, Cachexia, Optic disc pallor, Gastroeso...	ORPHA:191
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Abnormality of visual evoked potentials	ORPHA:1389
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Thanatophoric Dysplasia Type 1	Platyspondyly, Hearing impairment, Joint stiffness, Patent ductus arteriosus, Abnormal sacroiliac...	ORPHA:1860
Cole-Carpenter Syndrome 2	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Lambdoidal craniosynostosis, Coronal cranio...	OMIM:616294
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Hyperhidrosis	ORPHA:99868
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Sparse eyebrow, Cholelithiasis, Male urethral meatus stenosis, Contracture of the pr...	ORPHA:464738
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Weight loss, Hematochezia	ORPHA:103910
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Cerebral cortical atrophy, Sparse eyebrow, Limitation of joint mobility, Low-set, posteriorly rot...	ORPHA:457359
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Low posterior hairline, Short neck, Iron deficiency anemia, Early balding	ORPHA:261584
Kikuchi-Fujimoto Disease	Alopecia, Leukopenia, Enlargement of parotid gland, Splenomegaly, Myocarditis, Hepatomegaly, Lymp...	ORPHA:50918
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Intervertebral space narrowing, Narrow vertebral ...	OMIM:143095
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar...	ORPHA:95494
Adams-Oliver Syndrome 1	Aortic valve stenosis, Imperforate hymen, Alopecia, Hypoplastic left heart, Small nail, Supernume...	OMIM:100300
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating cortis...	ORPHA:97287
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter	OMIM:618373
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Sparse eyebrow, Thin eyebrow, Sensorineural hearing impairment, High palate, Hypospad...	OMIM:609944
Chromosome 6Q24-Q25 Deletion Syndrome	Mitral valve prolapse, Sparse eyelashes, Low posterior hairline, Dysplastic tricuspid valve, Dysp...	OMIM:612863
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Abnormal heart valve morphology, Pathologic fracture, Hypersplenism, ...	ORPHA:77293
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairline, ...	OMIM:194190
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Sensorineural hearing impa...	ORPHA:818
Toxic Epidermal Necrolysis	Abnormal vagina morphology, Weight loss, Abnormal myocardium morphology, Thrombocytopenia, Neutro...	ORPHA:537
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Aplasia of the ovary, Nail dysplasia, Hy...	ORPHA:69085
Mucolipidosis Iii Alpha/Beta	Limitation of joint mobility, Cardiomyopathy, Spondylolisthesis, Inguinal hernia, Hepatomegaly, C...	OMIM:252600
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss	ORPHA:411703
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Cerebral cortical atrophy, Sparse eyebrow, Cerebellar atrophy, Large for gestationa...	OMIM:617011
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss, Alopecia of scalp	ORPHA:704
Microcephalic osteodysplastic primordial dwarfism, type III	Optic atrophy, Cerebellar atrophy, Knee flexion contracture, Hip contracture, Kyphoscoliosis, Sev...	OMIM:210730
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:319213
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Sarcoidosis	Alopecia, Enlarged lacrimal glands, Parotitis, Leukopenia, Enlargement of parotid gland, Bone cys...	ORPHA:797
Atelis Syndrome 2	Low-set ears, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentra...	OMIM:620185
Neuroblastoma	Elevated circulating catecholamine level, Pathologic fracture, Weight loss, Horner syndrome, Thro...	ORPHA:635
Coffin-Siris Syndrome 1	Low-set ears, Facial hypertrichosis, Dry hair, Clitoral hypertrophy, Hearing impairment, Hypoplas...	OMIM:135900
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo...	ORPHA:1798
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decr...	OMIM:619573
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Horner syndrome, Failure to thrive	OMIM:256700
Trisomy 18	Narrow palate, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnormal morphology of...	ORPHA:3380
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n...	ORPHA:79318
Systemic Sclerosis	Alopecia, Osteomyelitis, Interstitial cardiac fibrosis, Osteolytic defects of the phalanges of th...	ORPHA:90291
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Hearing impairment, Absent eyelashes, Thin fingernail, Anal atresia, Ab...	ORPHA:85199
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Leukopenia, Leukocytosis, Hepatomegaly, Weight loss, Thrombocytosis, Anemia	ORPHA:20
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Alopecia totalis, Central adrenal insuffic...	OMIM:615577
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid...	ORPHA:100080
Microsporidiosis	Abnormality of the parathyroid gland, Abnormality of the spleen, Osteomyelitis, Decreased proport...	ORPHA:2552
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Macroglossia	ORPHA:412217
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Atrophy/Degeneration aff...	ORPHA:88644
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Chordee, Hypospadias, Posterior...	ORPHA:268261
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Hearing impairment, Failure ...	ORPHA:99885
Chronic Beryllium Disease	Weight loss, Abnormal proportion of CD4-positive T cells	ORPHA:133
Alström Syndrome	Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,...	ORPHA:64
Wrinkly Skin Syndrome	Atrial septal dilatation, Osteopenia, Hypoplasia of the musculature, Short nail, Failure to thriv...	OMIM:278250
Orofaciodigital Syndrome I	Alopecia, Dry hair, Abnormal heart morphology, Pancreatic cysts, Ovarian cyst, Enamel hypoplasia,...	OMIM:311200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Irregular menstruation, Gastroesophageal reflux, Hearing impairment, Recurrent oti...	OMIM:616482
Cockayne Syndrome Type 3	Dry hair, Conductive hearing impairment, Skeletal muscle atrophy, Gastroesophageal reflux, Premat...	ORPHA:90324
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Increased circulating insulin-like growth factor 1 concentration, Pituit...	OMIM:300942
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Stickler Syndrome	Hearing impairment, Slender build, Sensorineural hearing impairment, Short hard palate, Cachexia,...	ORPHA:828
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Fasciitis, Sclerosis of finger phalanx,...	ORPHA:90289
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Spondylolisthesis, Mitral valve...	OMIM:610168
Proteus Syndrome	Low-set ears, Decreased muscle mass, Myofibrillar myopathy, Exostosis of the external auditory ca...	ORPHA:744
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol...	ORPHA:2062
Spondyloenchondrodysplasia	Platyspondyly, Decreased response to growth hormone stimulation test, Pancytopenia, Vitiligo, Aut...	ORPHA:1855
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss, Myocarditis, Thyroiditis	ORPHA:139402
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Rheumatoid Arthritis	Digital flexor tenosynovitis, Joint stiffness, Rheumatoid arthritis, Weight loss	OMIM:180300
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Joint hypermobility, Shawl scrotum, High palate, Overfolded helix, Hypopig...	ORPHA:1974
Thyrotoxic Periodic Paralysis	Graves disease, Abnormal muscle fiber morphology, Lower limb muscle weakness, Obesity, Rhabdomyol...	ORPHA:79102
Pulmonary Alveolar Microlithiasis	Gonadal calcification, Stippled calcification in carpal bones, Decreased fertility, Mitral valve ...	ORPHA:60025
Dermatomyositis	Cellulitis, Alopecia, Abnormal eosinophil morphology, Chondrocalcinosis, Inflammatory myopathy, E...	ORPHA:221
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypospadias, Alopecia, Subungual hyperkeratosis, Atrichia, Umbilical hernia, Butterfly vertebrae,...	OMIM:308205
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Kyphosis, Delayed patellar ossification, Joint hypermobility, Delayed phalangeal epiphyseal ossif...	OMIM:603546
Chronic Graft Versus Host Disease	Alopecia, Gastroesophageal reflux, Xerostomia, Abnormal vagina morphology, Pancytopenia, Abnormal...	ORPHA:99921
Grfoma	Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol le...	ORPHA:97261
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomeg...	ORPHA:79128
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Premature graying of hair, Supernumerary nipple, Ectopic thymus...	OMIM:113620
Malignant Peritoneal Mesothelioma	Ileus, Weight loss	ORPHA:168811
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, B lymphocytopenia, Se...	ORPHA:83617
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid...	ORPHA:100082
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Cachexia, Duodenal ulcer, Sensorineural hearing impairment	ORPHA:3217
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Splenomegaly, Intestinal obstruction, ...	ORPHA:131
Familial Osteodysplasia, Anderson Type	Abnormal form of the vertebral bodies, Abnormal earlobe morphology, Large earlobe, Recurrent frac...	ORPHA:2769
Leprosy	Alopecia, Testicular mass, Skeletal muscle atrophy, Sparse body hair, Abnormality of the spleen, ...	ORPHA:548
Alkaptonuria	Aortic valve calcification, Limited hip movement, Intervertebral disk degeneration, Thickened Ach...	OMIM:203500
Perry Syndrome	Weight loss	ORPHA:178509
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Right ventricular dilatation	ORPHA:422
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Ppoma	Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol le...	ORPHA:97278
Monosomy 9Q22.3	Abnormality of the vertebral column, Umbilical hernia, Large for gestational age, Cardiac fibroma...	ORPHA:77301
Alg12-Cdg	Cryptorchidism, Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Aspartylglucosaminuria	Platyspondyly, Macroglossia, Spondylolysis, Pathologic fracture, Spondylolisthesis, Joint hypermo...	OMIM:208400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Neurodegeneration, Ankyloglossia, Decreased body weight, Hypsarrhythmia, Tort...	OMIM:619475
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Lumbar hyperlord...	OMIM:223800
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	OMIM:253270
African Trypanosomiasis	Alopecia, Abnormality of the menstrual cycle, Hepatosplenomegaly, Splenomegaly, Abnormality of ci...	ORPHA:3385
Familial Thrombocytosis	Chronic myelogenous leukemia, Vertigo, Splenomegaly, Acute myeloid leukemia, Weight loss, Hyperhi...	ORPHA:71493
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino...	ORPHA:144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Coffin-Lowry Syndrome	Highly arched eyebrow, Narrow palate, Coarse hair, Hearing impairment, Hyperconvex fingernails, T...	OMIM:303600
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Otitis media, Weight loss, Chro...	ORPHA:420741
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Scoliosis, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptor...	OMIM:616682
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Paraproteinemia, Monoclonal...	ORPHA:91139
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Atrophic scars, Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis, Hyperextensibility of th...	OMIM:617821
Pyomyositis	Myositis, Testicular teratoma, Weight loss, Leukocytosis	ORPHA:764
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Viss Syndrome	Mitral valve prolapse, Contracture of the proximal interphalangeal joint of the 2nd toe, Ventricu...	OMIM:619472
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis	OMIM:609638
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Vertigo, Gastrointestinal infarctions, Weight lo...	ORPHA:679
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Cerebella...	OMIM:258450
Reynolds Syndrome	Lymphopenia, Splenomegaly	OMIM:613471
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Limited elbow extension, Knee flex...	OMIM:618019
Double Outlet Left Ventricle	Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary va...	ORPHA:3427
Lysosomal Acid Lipase Deficiency	Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Primary adrenal insufficiency, Hype...	ORPHA:275761
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel...	OMIM:181000
Spondyloperipheral Dysplasia	Platyspondyly, Limited elbow extension, Sensorineural hearing impairment, Short neck, Kyphosis, O...	OMIM:271700
Reactive Arthritis	Osteomyelitis, Joint stiffness, Dystrophic fingernails, Weight loss, Arthritis, Enthesitis, Abnor...	ORPHA:29207
Biotinidase Deficiency	Hepatomegaly, Alopecia, Splenomegaly	OMIM:253260
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Complete atrioventricular canal defect, Scoliosis, Kyphosis, Synophrys	ORPHA:476126
Oromandibular Dystonia	Weight loss, Dysphagia, Torticollis	ORPHA:93958
Orofaciodigital Syndrome Type 1	Alopecia, Coarse hair, Abnormal dental enamel morphology, Pancreatic cysts, Brittle hair, Tarsal ...	ORPHA:2750
Colchicine Poisoning	Myocarditis, Alopecia, Leukocytosis	ORPHA:31824
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Joint hypermo...	ORPHA:2050
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Abnormality of the hypothalamus-pituitary axis, Otitis media, Intest...	ORPHA:900
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Keloids, Rickets, Failure to thrive, Camptodactyly ...	OMIM:309000
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hyp...	ORPHA:411602
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level	ORPHA:723
Systemic Lupus Erythematosus	Alopecia, Leukopenia, Weight loss, Arthritis, Thrombocytopenia, Hemolytic anemia	ORPHA:536
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology, Skeletal muscle atrophy	ORPHA:31
Beta-Ketothiolase Deficiency	Hepatomegaly, Weight loss, Leukocytosis, Thrombocytosis	ORPHA:134
Bullous Pemphigoid	Weight loss, Diabetes mellitus	ORPHA:703
Behçet Disease	Splenomegaly, Orchitis, Myositis, Weight loss, Abnormal myocardium morphology, Arthritis, Endocar...	ORPHA:117
Rett Syndrome, Congenital Variant	Gastroesophageal reflux, Protruding ear, EEG abnormality, Scoliosis, Kyphosis	OMIM:613454
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Supernumerary nipple, Congenital diaphragmatic hernia, Cryp...	OMIM:601803
Ring Chromosome 13 Syndrome	Alopecia, Bifid scrotum, Primary hypothyroidism, Short neck, Ambiguous genitalia, Urogenital sinu...	ORPHA:96176
Autosomal Dominant Hypocalcemia	Abnormal fingernail morphology, Alopecia, Reduced bone mineral density, Abnormality of the nail	ORPHA:428
Fryns-Smeets-Thiry Syndrome	Cachexia, Scoliosis, Joint hypermobility	ORPHA:2058
Choreoacanthocytosis	Peroneal muscle atrophy, Cerebral cortical atrophy, Distal amyotrophy, Decreased amplitude of sen...	ORPHA:2388
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Cachexia, Hearing impairment, Numerous pigmented freckles	ORPHA:220295
Mend Syndrome	Low-set ears, Failure to thrive, Cryptorchidism, Spotty hypopigmentation, Overfolded helix, High ...	OMIM:300960
Norrie Disease	Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Uterine rupture, Failure to ...	ORPHA:649
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Nephroblastoma	Neoplasm of the liver, Weight loss	ORPHA:654
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Normochromic anemia	ORPHA:91500
Gerstmann-Straussler Disease	Weight loss, Cerebellar atrophy, Lower limb muscle weakness	OMIM:137440
Relapsing Polychondritis	Alopecia, Limitation of joint mobility, Abnormal aortic valve morphology, Abnormal endocardium mo...	ORPHA:728
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Sotos Syndrome	Abnormal vertebral morphology, Hearing impairment, Small nail, Decreased fertility, Cryptorchidis...	ORPHA:821
Lymphedema-Distichiasis Syndrome	Cellulitis, Yellow nails, Tetralogy of Fallot, Ventricular septal defect, Distichiasis, Kyphosis	OMIM:153400
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum, Vertebral segmentation defect	ORPHA:2612
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Secondary Intestinal Lymphangiectasia	Lymphopenia	ORPHA:90363
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Spondylolysis, Hearing impairment, Delayed pubic bone ossific...	OMIM:119600
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Anoperineal fistula, Failure to thrive, Nail dystrophy, Scarring, Sparse hair	ORPHA:158668
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Pontocer...	ORPHA:171629
Liposarcoma	Weight loss	ORPHA:69078
Postinfectious Vasculitis	Bacterial endocarditis, Cardiomyopathy, Orchitis, Weight loss, Arthritis	ORPHA:48435
Caroli Disease	Cholelithiasis, Leukocytosis, Splenomegaly, Weight loss, Cholangiocarcinoma, Esophageal varix	ORPHA:53035
Atrial Septal Defect, Sinus Venosus Type	Right ventricular dilatation, Anomalous pulmonary venous return	ORPHA:99105
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Neuroendocrine neoplasm, Weight loss, Carcinoid tumor, Hepatomegaly	ORPHA:100085
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Biotinidase Deficiency	Alopecia, Limb muscle weakness	ORPHA:79241
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Back pain, Oligoar...	OMIM:106300
Perry Syndrome	Weight loss	OMIM:168605
Granulomatosis With Polyangiitis	Chronic otitis media, Weight loss, Granulomatosis	OMIM:608710
Behcet Syndrome	Patchy alopecia, Genital ulcers, Epididymitis, Arthritis	OMIM:109650
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis, Mitral valve prolapse	OMIM:177850
Focal Dermal Hypoplasia	Supernumerary nipple, Absent toenail, Congenital diaphragmatic hernia, Cryptorchidism, Brittle ha...	OMIM:305600
Atrial Septal Defect, Ostium Primum Type	Failure to thrive, Left atrial enlargement, Left ventricular hypertrophy, Right atrial enlargemen...	ORPHA:99106
Igg4-Related Kidney Disease	Sialadenitis, Eosinophilia, Prostatitis, Abnormality of the anterior pituitary, Weight loss, Enla...	ORPHA:449395
Scalp-Ear-Nipple Syndrome	Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha...	OMIM:181270
Nocardiosis	Cellulitis, Abnormal heart valve morphology, Osteomyelitis, Abnormality of the adrenal glands, We...	ORPHA:31204
Acquired Central Diabetes Insipidus	Diabetes insipidus, Weight loss	ORPHA:95626
Vascular Ehlers-Danlos Syndrome	Alopecia, Cigarette-paper scars, Uterine rupture, Umbilical hernia, Abnormal heart valve morpholo...	ORPHA:286
Trichotillomania	Alopecia	OMIM:613229
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Yunis-Varon Syndrome	Low-set ears, Cryptorchidism, Anterior concavity of thoracic vertebrae, Sensorineural hearing imp...	OMIM:216340
Malt Lymphoma	Anemia, Abnormality of the thyroid gland, Weight loss	ORPHA:52417
Cerebrocostomandibular Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Tracheomalacia, Short hard...	ORPHA:1393
Klatskin Tumor	Hepatomegaly, Weight loss	ORPHA:99978
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Obesity, Right atrial enlargement, Myeloproliferative disorder, Right ventricular ...	ORPHA:70591
Primary Fanconi Renotubular Syndrome	Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic rickets, Increased ...	ORPHA:3337
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Hand muscle weakness, Mu...	ORPHA:254886
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Decreased body weight, Omphalocele, Scoliosis, Kyphosis	OMIM:182210
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car...	ORPHA:75565
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Weight loss, Neuroendocrine neoplasm	ORPHA:100086
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Atrial Septal Defect, Coronary Sinus Type	Right atrial enlargement, Anomalous pulmonary venous return, Right ventricular dilatation, Unroof...	ORPHA:99104
Pancreatoblastoma	Pancreatic calcification, Weight loss	ORPHA:677
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Ineffective esophageal peristalsis, Small intestinal dysmotility, Achala...	OMIM:619482
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Joint hypermobilit...	OMIM:614437
Atrial Septal Defect, Ostium Secundum Type	Right atrial enlargement, Right ventricular dilatation, Abnormal mitral valve morphology	ORPHA:99103
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Limited elbow extension,...	OMIM:300106
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
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

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 Polg

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 Polg.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Polg2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Polg2^{tm1a(EUCOMM)Wtsi}	PMC6459510

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Polg^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Polg^{tm241349(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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