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Gene: Setx MGI:2443480

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Gene Summary

Name:
senataxin
Synonyms:
A930037J23Rik,  Als4

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased total retina thickness Setxtm1b(EUCOMM)Wtsi HOM Early adult 9.68×10-05
increased neutrophil cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 5.49×10-06
decreased lymphocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 6.23×10-06
increased monocyte cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 7.84×10-10
decreased leukocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 9.29×10-05
increased NK cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 2.36×10-05
male infertility Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased eosinophil cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 2.09×10-07
small testis Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
improved glucose tolerance Setxtm1b(EUCOMM)Wtsi HOM Early adult 2.06×10-05

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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

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

11 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

11 Images

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Human diseases caused by Setx 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 associated to Setx by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Gait ataxia, Chorea, Impaired distal vibration sensation, Progressive gait ataxia, Decreased moto... OMIM:606002
Amyotrophic Lateral Sclerosis Type 4
Somatic sensory dysfunction ORPHA:357043
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Cerebellar vermis atrophy, Postural tremor, Choreoathetosis, Ataxia,... ORPHA:64753

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Impaired pain sensat... DECIPHER:29
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... ORPHA:261529
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Immunodeficiency 88
Eosinophilia OMIM:619630
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
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 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Young Syndrome
Azoospermia OMIM:279000
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Truncal ataxia, Limb ataxia, Impaired proprioception, A... ORPHA:95434
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Amyotrophic lateral sclerosis OMIM:300857
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Macrosomia Adiposa Congenita
Eosinophilia, Adrenocortical adenoma OMIM:248100
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells OMIM:253550
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
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
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy OMIM:617892
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616437
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce... OMIM:614172
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Halothane Hepatitis
Eosinophilia OMIM:234350
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Abnormal neuron ... ORPHA:412066
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... OMIM:105550
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Distal sensory impairment, Axonal degeneration, Degeneration of anterior horn cells OMIM:604484
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Spinal Muscular Atrophy, Type Iii
Hand tremor, Degeneration of anterior horn cells OMIM:253400
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... ORPHA:432
Cinca Syndrome
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema OMIM:607115
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Boucher-Neuhauser Syndrome
Gait ataxia, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells OMIM:159950
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... ORPHA:8
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
Wells Syndrome
Eosinophilia ORPHA:901
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Roifman Syndrome
Hypogonadotropic hypogonadism, Retinal dystrophy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Anemia, Coombs-positive hemolytic anemia, Type I diabetes mellitus, Autoimmune th... OMIM:304790
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Opisthotonus, Ataxia, Abnormal lower motor neuron morphology, Amyotrophic lateral sc... OMIM:205100
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly OMIM:615387
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Degeneration of anterior horn cells, Hand tremor, Limb ataxia, Ataxia OMIM:607596
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Postural tremor OMIM:608627
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... ORPHA:754
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Thrombocytopenia OMIM:619644
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... OMIM:606070
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Facial diplegia, ... OMIM:611890
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Eosinophilia OMIM:147060
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Retrocollis, Opisthotonus, Ataxia, Axial dystonia, Amyotrophic lateral sclerosis, Head ti... ORPHA:300605
Omenn Syndrome
Hypothyroidism, Anemia, Thyroiditis, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyt... ORPHA:39041
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:300845
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Spinal Muscular Atrophy, Type Iv
Hand tremor, Degeneration of anterior horn cells OMIM:271150
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle le... OMIM:602450
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Hemochromatosis, Type 3
Anemia, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Amenorrhea OMIM:604250
Primary Lateral Sclerosis
Somatic sensory dysfunction, Cervical spinal cord atrophy, Abnormal lower motor neuron morphology... ORPHA:35689
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Ataxia, Degeneration of anterior horn cells ORPHA:2254
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Roifman Syndrome
Retinal dystrophy, Splenomegaly, Eosinophilia OMIM:616651
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Eosinophilia, Hepatosplenomegaly OMIM:618999
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... OMIM:603554
48,Xxyy Syndrome
Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hypoplasia of pen... ORPHA:10
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Distal sensory impairment, Pares... OMIM:263570
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Eosinophilia ORPHA:2070
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... ORPHA:752
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Decreased compound muscle acti... OMIM:606353
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Brain atrophy, Cranial nerve compression, Abnormal motor neuron morphology, Amyotrophic lateral s... ORPHA:52430
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Hypothyroidism, B lymphocytopenia, Neutrop... OMIM:301082
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea OMIM:614858
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Wolfram Syndrome, Mitochondrial Form
Diabetes insipidus, Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Diabetes mellitus,... OMIM:598500
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Neutropenia, Hemolytic anemia OMIM:266130
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... ORPHA:444463
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 95
Lymphopenia OMIM:619773
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity ORPHA:318
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Progressive gait ataxia, Abnormal lower motor neuron morphol... ORPHA:276244
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal lower motor neuron morphology, Degeneration of the lateral cortico... ORPHA:275872
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased serum estradiol, Absenc... ORPHA:2232
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:615285
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Cutaneous abscess, Eosinophilia OMIM:618282
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Late-Onset Isolated Acth Deficiency
Premature ovarian insufficiency, Normocytic anemia, Decreased circulating ACTH level, Decreased c... ORPHA:199299
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Functioning Gonadotropic Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... ORPHA:91348
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Aspergillosis
Neutropenia, Eosinophilia, Vitritis ORPHA:1163
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... ORPHA:1772
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cancer, Acute lymphob... ORPHA:158057
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... ORPHA:361
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Thyroid carcinoma, Abnormal proportion of CD8-positive T cells, Coombs-po... ORPHA:3261
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess OMIM:615816
Bone Marrow Failure Syndrome 6
Hypothyroidism, Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, In... OMIM:618849
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Thyroiditis, Splenomegaly OMIM:617388
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Thyroiditis, Eosinophilia ORPHA:139402
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... ORPHA:300298
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Eosinophilia, Ovarian cyst, Abs... ORPHA:400
48,Xxxy Syndrome
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... ORPHA:96263
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor ORPHA:2590
Idiopathic Camptocormia
Myelitis, Syringomyelia, Amyotrophic lateral sclerosis, Cerebral atrophy, Dystonia ORPHA:1320
Incontinentia Pigmenti
Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Breast aplasia, Supernumerary ... OMIM:308300
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Thrombocytopenia OMIM:301080
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal sensory impairment, Amyotrophic lateral sclerosis ORPHA:600
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Te... OMIM:222300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess OMIM:618108
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
49,Xxxxy Syndrome
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... ORPHA:96264
8P11.2 Deletion Syndrome
Patent ductus arteriosus, Hypogonadism, Hypoplasia of penis, Azoospermia, Cryptorchidism, Hypogon... ORPHA:251066
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Netherton Syndrome
Hypereosinophilia OMIM:256500
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Lymphope... ORPHA:100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Spastic Paraplegia 9A, Autosomal Dominant
Gait ataxia, Resting tremor, Abnormal upper motor neuron morphology, Impaired vibratory sensation... OMIM:601162
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells OMIM:604320
Immunodeficiency 44
Lymphopenia OMIM:616636
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy OMIM:221770
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia OMIM:616738
Fanconi Anemia, Complementation Group A
Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227650
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Hypopigmentation of the fundus, Ocular albinism OMIM:614171
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Immunodeficiency 54
Adrenal insufficiency, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Spl... OMIM:609981
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproliferative disorder... ORPHA:3226
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... ORPHA:158061
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm OMIM:614874
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Ataxia, Abnormal lower motor neuron morphology, Tremor, Dystonia, Oromandibular dy... OMIM:614298
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hemophagocytosis, Bone ... OMIM:301078
Lymphatic Filariasis
Hypereosinophilia, Vaginal hydrocele, Abnormality of the scrotum, Hydrocele testis, Epididymitis,... ORPHA:2035
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:616050
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Diabetes mellitus, Delayed puberty, Micrope... ORPHA:168569
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... ORPHA:91351
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Female pseud... ORPHA:91
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Hypospadias, Macrocytic anemia OMIM:612528
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Abnormality of the submandibular glands, Abnormal salivary... ORPHA:449432
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypogonadism, Crypto... OMIM:600901
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia OMIM:618624
Incontinentia Pigmenti
Retinal hemorrhage, Retinal vascular proliferation, Abnormal chorioretinal morphology, Supernumer... ORPHA:464
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... OMIM:308240
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombo... ORPHA:88
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Hypoglycemia, Cryptorchidism, M... OMIM:617575
Alveolar Echinococcosis
Pancreatic cysts, Anemia, Abnormality of adrenal morphology, Liver abscess, Abnormal spleen morph... ORPHA:284
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... ORPHA:158048
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... ORPHA:79124
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Abnormal testis morphology, Liver abscess, Neutrophilia ORPHA:54251
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Mirage Syndrome
Leukopenia, Anemia, Shawl scrotum, Adrenal insufficiency, Decreased testicular size, Microphallus... OMIM:617053
Igg4-Related Pachymeningitis
Abnormal optic nerve morphology, Parotitis, Eosinophilia ORPHA:449427
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Optic nerve compression, ... ORPHA:96253
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, Pancytopenia, ... OMIM:619767
Coccidioidomycosis
Abnormal retinal morphology, Granuloma, Abnormality of the male genitalia, Eosinophilia, Abnormal... ORPHA:228123
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromi... ORPHA:514
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Bloom Syndrome
Decreased fertility in females, Type II diabetes mellitus, Azoospermia, Cryptorchidism OMIM:210900
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, ... ORPHA:552
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... ORPHA:3260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Prostatitis, Thyroiditis, Enlarged lacrimal glands, Eosino... ORPHA:449563
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Micropenis, Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypogonadism, Crypto... OMIM:227645
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... OMIM:300835
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Scleroderma
Hypereosinophilia ORPHA:801
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Diabetes mellitus, Leukocytosis, Increased circulating procalcitonin co... ORPHA:36238
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827