Gene Summary

neurofibromin 1
neurofibromin,  Dsk9,  Nf-1,  Mhdadsk9

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nf1tm1a(KOMP)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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



24 Images

Legacy Phenotype Associated Images

View all 126 images

View all 48 images

Human diseases caused by Nf1 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.

The table below shows human diseases predicted to be associated to Nf1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Cutaneous angiolipomas, Retroperitoneal chemodectomas, Chemodectoma OMIM:118350
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... OMIM:153600
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
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
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma OMIM:606864
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Pheochromocytoma/Paraganglioma Syndrome 5
Paraganglioma OMIM:614165
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Nf1-Microdeletion syndrome
Neurofibroma DECIPHER:15
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... ORPHA:1332
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
N Syndrome
Cryptorchidism, Leukemia, Neoplasm OMIM:310465
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Fanconi Anemia, Complementation Group G
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Partington Syndrome
Macroorchidism ORPHA:94083
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly OMIM:607685
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia ORPHA:90026
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Leukemia, Cirrhosis, Myeloid leukemia OMIM:614743
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, H... OMIM:614470
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis OMIM:616871
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Macroorchidism, Long penis ORPHA:2477
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr... OMIM:202700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
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
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Bazex Syndrome
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Chemodectoma, Glomus jugular tumor, Neoplasm OMIM:601650
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... OMIM:601399
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... OMIM:613675
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... ORPHA:185
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Congenital Heart Block
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Patent ductus... ORPHA:60041
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Anemia, Adrenocortical adenoma, Pheochromocytoma, ... ORPHA:139411
Pericardial effusion, Ascites OMIM:256150
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Primary Effusion Lymphoma
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion, Dyspnea ORPHA:48686
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... OMIM:615415
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery at... OMIM:601186
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Basal ce... ORPHA:2874
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Transaldolase Deficiency
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Atrial septal defect, Pr... ORPHA:101028
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... ORPHA:36412
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Anemia OMIM:616435
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... ORPHA:1041
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... OMIM:616589
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Microcephaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac sep... OMIM:608776
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Gombo Syndrome
Microphthalmia, Microcephaly, Abnormal heart morphology OMIM:233270
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Elevated circulating parathy... ORPHA:97685
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonado... ORPHA:652
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... OMIM:235200
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... OMIM:615542
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... OMIM:229070
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias OMIM:605724
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... OMIM:232300
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Hydranencephaly, Truncus arte... OMIM:601355
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Fragile X Syndrome
Macroorchidism ORPHA:908
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Hypertrophic ca... OMIM:614702
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Hepatomegaly, Myelodysplasia, Anemia of ... ORPHA:75564
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Cardiomegaly OMIM:227150
Sarcoma ORPHA:69078
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Polycys... OMIM:613885
Ataxia-Pancytopenia Syndrome
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... OMIM:159550
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Anemia, Pulmonary fibrosis, Cirrhosis, Reticular p... OMIM:614742
Hemangioma, Neoplasm, Pheochromocytoma OMIM:171300
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Exerc... OMIM:201475
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... ORPHA:980
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc... ORPHA:401935
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Micropenis, Infertility ORPHA:261524
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Leukemia, Meningioma OMIM:602501
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Myelodysp... ORPHA:486
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Ventricular septal defect, Truncus arteriosus, Con... OMIM:609029
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... OMIM:615355
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal... ORPHA:276621
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Congenital Macroglossia
Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Redundant neck skin, Nonimmune hydrops fetalis OMIM:619003
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Hepatomegaly, Scapular win... ORPHA:26791
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Spleno... ORPHA:464329
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Microcephaly, Cardiomegaly, Flexion contr... OMIM:616897
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia, Anemia OMIM:619151
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated c... ORPHA:100083
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Splenomegaly, Myeloproliferative disorder OMIM:254450
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertroph... OMIM:618815
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial... ORPHA:29072
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Narrow mouth, Mic... OMIM:614669
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Nonimmune hydrops fetali... ORPHA:137667
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Stroke OMIM:602248
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Microcephaly, Abnormal lung lobation, Abnormal aortic morphology, Trun... ORPHA:2516
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Emphysema, Dyspnea, Bronch... OMIM:612387
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Perica... OMIM:619487
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Flexion contracture, Cardiomyopathy, Abnormality of the amniotic fluid... OMIM:608540
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Peripheral nerve compression, Rib exos... OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Peripheral nerve compression, Rib exos... OMIM:133700
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... ORPHA:90308
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Cardiomegaly, Jaundice, Hydrocephalus,... ORPHA:858
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Renal hypoplasia... OMIM:615583
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... OMIM:215045
Glycogen Storage Disease Iv
Decreased fetal movement, Skeletal muscle atrophy, Polyhydramnios, Edema, Hydrops fetalis, Cardio... OMIM:232500
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, Pulmonary capilla... ORPHA:199241
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion ORPHA:85414
Neurofibromatosis Type 1
Astrocytoma, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Chronic mye... ORPHA:636
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Cough, Mediastinal lymphadenopathy, Atelectasis,... OMIM:620233
Leptin Deficiency Or Dysfunction
Micropenis, Hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614962
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the central nervous system, Anemia, Neoplasm of the liver, Thrombocyt... ORPHA:69077
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Emanuel Syndrome
Recurrent respiratory infections, Multiple joint contractures, Ventricular septal defect, Truncus... ORPHA:96170
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... OMIM:601927
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia ORPHA:3318
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... OMIM:253300
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Turcot Syndrome With Polyposis
Papilledema, Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, ... ORPHA:99818
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Rhinorrhea, Myocarditis, Oliguria, Pedal edema, Cardiorespirat... ORPHA:188
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Acute leukemia ORPHA:281090
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Lymphedema, Periorbital edema, Vesicoureteral reflux, Atrial septal defect, Spina... OMIM:235510
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Microcephaly, Partial anomalous pulmonary venous ... OMIM:617478
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Granuloma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutane... ORPHA:363700
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Fetal ascites, Polyhydramnios, Pericardial effusion, Myo... ORPHA:292
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Stroke, Pallor ORPHA:90064
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... ORPHA:653
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Pericardial effusion, Hypersplenism, Splenomegaly, Abnormal pulmonary ... ORPHA:77259
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... OMIM:617516
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Micropenis, Pectus excavatum OMIM:614684
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Dysp... ORPHA:67
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... OMIM:231530
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Pediatric Systemic Lupus Erythematosus
Dark urine, Myositis, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Dyspnea, Ray... ORPHA:93552
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Imbalanced hemoglobin synthesi... ORPHA:99867