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Gene: Trappc2l MGI:1916295

Gene Summary

Name:

trafficking protein particle complex 2L

Synonyms:

Tca17, 1810017G16Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart morphology	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased erythrocyte cell number	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	5.83×10^-06
abnormal testis morphology	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
female infertility	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased prepulse inhibition	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	1.53×10^-08
increased mean corpuscular hemoglobin	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	1.54×10^-06
abnormal spleen morphology	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean corpuscular volume	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	7.50×10^-28
increased heart weight	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	3.31×10^-10
small testis	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral content	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	3.40×10^-10
enlarged heart	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	3.55×10^-05
male infertility	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal bone structure	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	4.06×10^-06
enlarged spleen	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	1.20×10^-05
abnormal freezing behavior	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	2.92×10^-10
increased mean platelet volume	Trappc2l^em1(IMPC)Mbp	HOM	Early adult	2.14×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Histopathology

Images

3 Images

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Human diseases caused by Trappc2l 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 Trappc2l (1 diseases)
Human diseases predicted to be associated with Trappc2l (687 diseases)

The table below shows human diseases associated to Trappc2l by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis		Inability to walk	OMIM:618331

The table below shows human diseases predicted to be associated to Trappc2l by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac sep...	ORPHA:3319
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance	ORPHA:2274
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Beta-Thalassemia	Irritability, Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Hypertrophic ca...	ORPHA:848
Bernard-Soulier Syndrome	Giant platelets, Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induce...	OMIM:231200
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidis...	OMIM:618849
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Increased mean platelet volume, Menorrhagia, Congen...	ORPHA:182050
Premature Ovarian Failure 2B	Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno...	OMIM:300604
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet...	OMIM:617443
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Beta-Thalassemia Intermedia	Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decrea...	ORPHA:231222
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Ventricular septal defect, Ascites, Sideroblastic anem...	OMIM:617021
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Anorexia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Lethar...	OMIM:611590
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Ethanolaminosis	Cardiomegaly	OMIM:227150
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Classic Galactosemia	Delayed puberty, Reduced bone mineral density, Abnormal erythrocyte enzyme concentration or activ...	ORPHA:79239
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o...	ORPHA:261529
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Osteoporosis, Abnormality of ...	ORPHA:2169
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen...	OMIM:169400
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de...	OMIM:617052
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Irritabi...	ORPHA:231226
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Secundum atrial s...	OMIM:612562
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Impotenc...	OMIM:235200
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly...	OMIM:210250
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Azoospermia, Reticulocytopenia, Abnormality of the hypothalamus-pitu...	ORPHA:300298
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia	ORPHA:238459
Takenouchi-Kosaki Syndrome	Hypospadias, Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Ataxia, Cryptor...	OMIM:616737
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Hypospadias, Thrombocytopenia, Left ventricular hypertrophy,...	OMIM:611209
Hyperprolactinemia	Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Majeed Syndrome	Delayed puberty, Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:609628
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Splenomegaly, Lethargy, Amenor...	OMIM:602390
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia	OMIM:616176
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, Splenomegaly, Hypogonadism...	OMIM:613313
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Ventricular septal defect, Thrombocytopenia, Dysphagia, Dilate...	ORPHA:261250
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Abnormal he...	ORPHA:811
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ...	OMIM:127550
Trimethylaminuria	Depression, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Mantle Cell Lymphoma	Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:52416
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ...	ORPHA:84064
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar...	ORPHA:98798
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in...	ORPHA:98797
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 17	Male infertility	OMIM:617214
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hemolytic anemia	OMIM:615010
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Congenital Toxoplasmosis	Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemogl...	OMIM:616943
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia	OMIM:124900
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Cholestasis, Ventricular septal defect, Pulmonic ...	OMIM:222470
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Spastic ataxia, Megaloblastic anemia, Lethargy	OMIM:277410
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Infert...	ORPHA:465508
Glut1 Deficiency Syndrome 2	Irritability, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis	ORPHA:100024
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Gait disturbance, Ataxi...	ORPHA:2585
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism	OMIM:261550
Bernard-Soulier Syndrome	Giant platelets, Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Imp...	ORPHA:274
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia	OMIM:613977
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Neuraminidase Deficiency	Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath...	OMIM:256550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Cho...	ORPHA:79312
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt...	OMIM:206100
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiom...	OMIM:252920
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Castleman Disease	Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Myelo...	ORPHA:160
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Sideroblastic anemia, T...	OMIM:222300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricul...	OMIM:618278
Primary Ciliary Dyskinesia	Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar...	ORPHA:244
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Abnormality of the endocrine system, Abnormality of the lymphatic system, Total anom...	ORPHA:487796
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia, Asplenia	OMIM:618948
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Abnormality of t...	ORPHA:172
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Premature Ovarian Failure 22	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:620548
Aromatase Deficiency	Osteopenia, Male infertility, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enla...	ORPHA:91
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Difficulty walking, Acute hepatitis, Depression, Hepat...	ORPHA:905
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Rickets of the lower limbs	ORPHA:882
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Ataxia	OMIM:231000
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of...	OMIM:612840
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Splenomegaly	ORPHA:37748
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Hypothyroidism, Female infertility, Goiter	OMIM:617577
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Depression, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolyt...	ORPHA:108
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marr...	OMIM:257200
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Immunodeficiency 27A	Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen...	OMIM:209950
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number of alpha granules,...	OMIM:139090
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Thrombocytopenia 10	Decreased mean platelet volume, Menorrhagia, Thrombocytopenia	OMIM:620484
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia	ORPHA:276183
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Splenomegaly, Neonata...	ORPHA:79301
Kennedy Disease	Erectile dysfunction, Gait disturbance, Type II diabetes mellitus, Decreased fertility, Testicula...	ORPHA:481
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly, Osteo...	ORPHA:391
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Spinocerebellar Ataxia 32	Infertility, Ataxia, Testicular atrophy, Azoospermia	OMIM:613909
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivit...	ORPHA:3000
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Reduced bone mineral density, Leukopenia, Splenomegaly, Lymphopenia, Ventricular se...	OMIM:620210
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leuk...	ORPHA:824
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Delayed puberty, Anorexia, Anemia, Decreased ma...	ORPHA:330015
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Gaucher Disease Type 1	Delayed puberty, Ascites, Leukopenia, Splenomegaly, Osteolysis, Anorexia, Pancytopenia, Depressio...	ORPHA:77259
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence	ORPHA:85447
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Exoc...	OMIM:612714
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le...	ORPHA:507
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Agitation, Macrocytic anemia, Cardiomyopathy, Ataxia, Splenomegaly	OMIM:619046
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo...	OMIM:620438
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia	OMIM:618838
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Eisenmenger Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Atrioventricular canal defec...	ORPHA:97214
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Decreased testicular size, Ataxia, Splenomegaly, ...	OMIM:201100
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Type I diabetes mellitus, Thrombocytopenia, Splenomegaly, Atrial ...	ORPHA:290
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Thickened cortex of long bo...	OMIM:253250
Free Sialic Acid Storage Disease	Reduced bone mineral density, Hepatomegaly, Athetosis, Ascites, Gait disturbance, Ataxia, Splenom...	ORPHA:834
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati...	OMIM:619938
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st...	OMIM:612526
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Fatigable weakness, Ataxia, Cardiomegaly, Hepatic steatosis, Lethargy, Fatigable we...	ORPHA:42
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, ...	OMIM:228000
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin...	OMIM:250790
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly, Dilated cardiomyopathy, Lethargy	OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Lethargy	OMIM:619064
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Difficulty walking, Ventricular hypertrophy, Cardiomyopathy, Waddling ga...	OMIM:300280
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath...	OMIM:212140
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Abnorm...	ORPHA:264580
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa...	OMIM:187900
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp...	ORPHA:457077
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Myeloproliferative dis...	ORPHA:100924
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Increased hepatic glycogen content, Depression, Truncal ataxia, Cardiomyopathy, Gait...	OMIM:619259
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Dysphagia	OMIM:313200
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Hepa...	ORPHA:525731
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Abnormal hea...	ORPHA:77261
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Male infertility, Reduced sperm motility, Immotile sperm, Polysplenia	OMIM:613807
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Broad-based gait, Truncal ataxia, Recurrent hand flapping, Persistence of hemoglobin...	OMIM:617101
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Abnormality of the lymphatic sys...	ORPHA:1414
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Steppage gait, Inability to walk, Abnormal atrioventricular valve morphology, Aortic valve stenos...	ORPHA:324410
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, Hypothyr...	ORPHA:79330
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Fanconi Anemia, Complementation Group A	Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnorm...	OMIM:227650
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Irritability, Elevated circulating parathyroid hormone level, Hepatomegaly, Difficulty w...	ORPHA:289157
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Whipple Disease	Myocarditis, Polydipsia, Anorexia, Hepatomegaly, Erectile dysfunction, Mediastinal lymphadenopath...	ORPHA:3452
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Akinesia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Dysp...	OMIM:608013
8P11.2 Deletion Syndrome	Azoospermia, Hypoplasia of penis, Spherocytosis, Abnormality of the hypothalamus-pituitary axis, ...	ORPHA:251066
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Hypertrophic card...	ORPHA:79083
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in female...	OMIM:269700
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Loss of ambulation, Dysphagia, Restlessness, Cardiomegaly, Choreoath...	ORPHA:391428
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8...	OMIM:150550
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:616950
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Ascites, Hypertrophic cardiomyopathy, Decreased skull ossification, Card...	OMIM:616897
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcification, Adren...	ORPHA:75233
Sandhoff Disease	Hepatomegaly, Impotence, Ataxia, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:108420
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Leukocytosis, Abnormal granu...	ORPHA:1451
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon...	ORPHA:90796
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Thrombocytopenia, ...	ORPHA:381
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias	ORPHA:98791
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia	ORPHA:621
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Loss of ambulation, Female infertility	OMIM:619518
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Increased bone miner...	OMIM:259700
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Mcleod Syndrome	Hepatomegaly, Depression, Cardiomyopathy, Compulsive behaviors, Splenomegaly, Dilated cardiomyopa...	OMIM:300842
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi...	OMIM:619802
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Hepatocellular carcinoma, Polycystic ova...	ORPHA:79240
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Primary ...	ORPHA:85450
Mucopolysaccharidosis Type 3	Abnormal temper tantrums, Hepatomegaly, Abnormal aortic valve morphology, Reduced bone mineral de...	ORPHA:581
47,Xyy Syndrome	Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol...	ORPHA:8
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Cantu Syndrome	Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric...	OMIM:239850
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Male infertility	OMIM:300991
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Irritab...	OMIM:259720
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopathy, Dysmenorrhea, Sple...	ORPHA:2348
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior ri...	OMIM:260400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 2	Irritability, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Le...	OMIM:603553
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly	OMIM:252900
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy	OMIM:614702
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Hemophagocytic Lymphohistiocytosis, Familial, 1	Irritability, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia...	OMIM:267700
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome...	OMIM:201475
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Lesch-Nyhan Syndrome	Megaloblastic anemia, Dysphagia, Self-injurious behavior, Choreoathetosis, Testicular atrophy	OMIM:300322
Abetalipoproteinemia	Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Steppage gait, Broad-based gait, Reticulocytosis, Hy...	ORPHA:14
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo...	OMIM:619949
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del...	ORPHA:99429
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Increased size of nasopharyngeal adenoids, Ventricular septal defect, Persi...	OMIM:619769
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Hypoplasia of penis, Depression, Male pseudohermaphroditism, Abnormality of the male geni...	ORPHA:847
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Decreased skull ossification, Testicular atrophy	OMIM:601163
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Truncal ataxia, Cardiomyopathy, Impotence, Ataxia, Cardiomegaly	OMIM:105210
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Legionnaires Disease	Myocarditis, Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Peri...	ORPHA:549
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus, Male infertility, Immotile sperm	OMIM:614874
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Anemia, Hepatomegaly, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Gait disturbance, Leukopenia, ...	OMIM:214500
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Gait disturbance, Ataxia, Dysphagia, Splenomegaly, Thin bon...	OMIM:230600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Bradykinesia, Premature ovarian insufficiency, Secondary amenorrhea, Depression, Hypergonadotropi...	OMIM:157640
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad...	OMIM:301040
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in females, Cystic angiomatosi...	OMIM:608594
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Sp...	OMIM:602450
Timothy Syndrome	Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Gaucher Disease	Delayed puberty, Leukopenia, Splenomegaly, Dysphagia, Ataxia, Osteolysis, Pancytopenia, Increased...	ORPHA:355
Camurati-Engelmann Disease	Delayed puberty, Anorexia, Hepatomegaly, Anemia, Hyperostosis, Waddling gait, Hypertrophic cardio...	ORPHA:1328
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Spleno...	ORPHA:77297
Beck-Fahrner Syndrome	Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect, Depression	OMIM:618798
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inability to walk, Gait disturbance, Inappropriate laughter, Ataxia, Cardiomegaly, ...	OMIM:618143
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Ad...	ORPHA:57777
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella	OMIM:620197
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation...	OMIM:602347
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Ataxia	OMIM:266500
Q Fever	Myocarditis, Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal heart valve morphology, Pe...	ORPHA:781
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Depression, Acute promyeloc...	ORPHA:77293
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Delayed epiphyseal ossification	OMIM:613320
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosp...	OMIM:611881
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splen...	OMIM:607765
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Jaundice, Hepatomegaly, Difficulty walking, Truncal ataxia, Dysdiadochokinesis, Por...	ORPHA:309854
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Ataxia, S...	OMIM:616084
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal heart valve morphology, Osteoporosis, Aortic valve st...	ORPHA:363705
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Male infertility	OMIM:612444
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Bicu...	ORPHA:99226
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau...	OMIM:257220
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia, Abdominal situs inversus	OMIM:619607
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension...	OMIM:615688
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Hepatic steatosis, Lethargy	OMIM:255120
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ventricular septal...	ORPHA:1655
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Osteolysis	OMIM:612852
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Polycythemia Vera	Acute leukemia, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hypertension, Portal vein throm...	ORPHA:729
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Hypospadias, Az...	ORPHA:1772
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Osteoporosis, Oligomenorrhea, Pituitary adeno...	OMIM:219090
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop...	OMIM:110100
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Hypothyroidism, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Atrial...	OMIM:208540
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal bone ossification, Abnormal thymus morphology, Osteopenia	ORPHA:2463
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
Brucellosis	Myocarditis, Anorexia, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valv...	ORPHA:1304
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Pure red cell aplasia, Imbalan...	ORPHA:99867
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C...	OMIM:619991
Alkaptonuria	Prostatitis, Reduced bone mineral density, Black pigment gallstones, Abnormal heart valve morphol...	ORPHA:56
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Hepa...	OMIM:614921
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Aicardi-Goutières Syndrome	Irritability, Difficulty walking, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopeni...	ORPHA:51
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Bicuspid aortic valve, Cardiomegaly, Irritab...	OMIM:300855
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Osteolysis, R...	OMIM:263700
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Abnormal testis morphology, Osteoporos...	ORPHA:1775
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic...	OMIM:610199
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hypothyroidism, Hepatomegaly	ORPHA:349
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Difficulty walking, Splenomegaly	OMIM:232300
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Male infertility, Asplenia	OMIM:244400
Hyperparathyroidism, Neonatal Severe	Polydipsia, Elevated circulating parathyroid hormone level, Hepatomegaly, Anemia, Primary hyperpa...	OMIM:239200
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Ataxia, ...	ORPHA:699
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Patent foramen ovale, Osteoporosis, Generalized osteoporosis, ...	OMIM:245600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly, Dilated cardiomyop...	OMIM:608836
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias, Lethargy	OMIM:620306
Idiopathic Hypereosinophilic Syndrome	Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myocardial eosin...	ORPHA:3260
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Fucosidosis	Spastic gait, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly	OMIM:230000
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Inability to walk, Dysphagia, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Abnormal temper tantrums, Limb ataxia, Anemia, Cholelithiasis, Pancytopenia, Azo...	ORPHA:2072
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ...	ORPHA:572333
Steinert Myotonic Dystrophy	Impotence, Aggressive behavior, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:273
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect,...	OMIM:300967
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy	ORPHA:1517
Kikuchi-Fujimoto Disease	Myocarditis, Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lym...	ORPHA:50918
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Immunodeficiency 31C	Autoimmune hemolytic anemia, Osteopenia, Delayed puberty, Hepatomegaly, Impaired lymphocyte trans...	OMIM:614162
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigable weakness of respiratory muscles, Hepatomegaly, Difficulty walking, Inability to walk, H...	ORPHA:365
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Irrita...	OMIM:301068
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, Splenomegaly	OMIM:612301
Mucolipidosis Ii Alpha/Beta	Osteopenia, Tip-toe gait, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegal...	OMIM:252500
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Lymphadenopathy, Pa...	OMIM:256040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Primary Sclerosing Cholangitis	Cholestasis, Ascites, Splenomegaly, Type I diabetes mellitus, Jaundice, Depression, Thyroiditis, ...	ORPHA:171
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Inability to walk, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatatio...	OMIM:620371
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Osteoporo...	OMIM:232220
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Male infertility	OMIM:614935
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Inability to walk, Truncal ataxia, Partial atrioventricular canal defect, ...	OMIM:620066
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis	OMIM:249100
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Visceromegaly, Hypertrophic cardiomy...	ORPHA:116
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Osteoporosis, Thrombocytopenia, Leukopenia,...	OMIM:222700
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Cardiomyopathy, Hepatoblastoma, Pancreat...	OMIM:130650
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Ascites, Leukocytosis, Pericarditis, Splenomegaly, Per...	ORPHA:342
Crimean-Congo Hemorrhagic Fever	Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A...	ORPHA:99827
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens	ORPHA:48
Tyrosinemia, Type I	Enlarged kidney, Cirrhosis, Anemia, Hepatomegaly, Hypophosphatemic rickets, Hepatocellular carcin...	OMIM:276700
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Ventricular septa...	ORPHA:353281
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification...	ORPHA:228308
Congenital Erythropoietic Porphyria	Osteopenia, Osteoporosis, Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly...	ORPHA:79277
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Splenomegaly,...	ORPHA:667
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets	OMIM:208000
Williams Syndrome	Hypoplasia of penis, Pulmonic stenosis, Ataxia, Mitral valve prolapse, Bicuspid aortic valve, Car...	ORPHA:904
Sarcoidosis, Susceptibility To, 1	Anorexia, Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary ...	OMIM:181000
Multiple Myeloma	Osteopenia, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Biliary cirrhosis, Hepatosplenomegaly, E...	OMIM:219700
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Inability to walk, Osteoporosis, Abnormality of the Leydig cells, Unsteady gait, Cry...	ORPHA:3063
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Po...	ORPHA:731
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Polycystic ovaries, Ventricular septal defect, Lethargy	ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:308552
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Cystinosis, Nephropathic	Rickets, Delayed puberty, Male infertility, Hepatomegaly, Hypophosphatemic rickets, Polydipsia, P...	OMIM:219800
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism	ORPHA:2239
Bohring-Opitz Syndrome	Annular pancreas, Inability to walk, Cholelithiasis, Cardiomegaly, Abnormal cardiac septum morpho...	ORPHA:97297
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion o...	OMIM:619381
Cystic Fibrosis	Osteopenia, Absent vas deferens, Cirrhosis, Male infertility, Depression, Osteoporosis, Exocrine ...	ORPHA:586
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi...	ORPHA:353277
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Absent sternal ossification, Ventricular septal defect, Cardio...	ORPHA:3472
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Male infertility, Hypospadias, Amegakaryocytic thrombocytopenia...	OMIM:163950
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Generalized Arterial Calcification Of Infancy	Irritability, Hypophosphatemic rickets, Osteomalacia, Ventricular hypertrophy, Abnormal calcifica...	ORPHA:51608
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Singleton-Merten Syndrome 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Waddling gait, Mitral valve calcific...	OMIM:182250
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Ataxia, Splenomegaly, Decreased circulatin...	ORPHA:64
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis	Inability to walk	OMIM:618331

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Testis - MPATH pathological process term atrophy	Trappc2l^em1(IMPC)Mbp	HOM		Early adult
Testis - MPATH pathological process term hypoplasia	Trappc2l^em1(IMPC)Mbp	HOM		Early adult

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 Trappc2l.

No publications found that use IMPC mice or data for Trappc2l.

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MGI Allele	Allele Type	Produced
Trappc2l^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trappc2l^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trappc2l MGI:1916295

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Histopathology

Human diseases caused by Trappc2l mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data