Gene Summary

Name:
estrogen receptor 2 (beta)
Synonyms:
ERbeta,  Estrb,  oestrogen receptor beta,  ER beta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased total body fat amount Esr2em1(IMPC)Marc HOM Early adult 1.33×10-11
decreased leukocyte cell number Esr2em1(IMPC)Marc HOM Early adult 2.14×10-05
decreased bone mineral content Esr2em1(IMPC)Marc HOM Early adult 3.41×10-08
decreased bone mineral density Esr2em1(IMPC)Marc HOM Early adult 3.78×10-07
increased circulating serum albumin level Esr2em1(IMPC)Marc HOM   Early adult 2.99×10-05
thin ventricular wall Esr2em1(IMPC)Marc HOM Early adult 1.87×10-05
decreased lean body mass Esr2em1(IMPC)Marc HOM Early adult 3.31×10-11
decreased lymphocyte cell number Esr2em1(IMPC)Marc HOM Early adult 2.01×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Esr2 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 Esr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ovarian Dysgenesis 8
Decreased serum estradiol, Decreased cirrculating antimullerian hormone circulation, Elevated cir... OMIM:618187

The table below shows human diseases predicted to be associated to Esr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 17
Male infertility OMIM:617214
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Decreased cirrculating antimullerian hormone circu... OMIM:619146
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
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
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:620548
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 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 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:301077
Plasminogen Activator Inhibitor-1 Deficiency
Menorrhagia OMIM:613329
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 12
Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Systemic Mastocytosis With Associated Hematologic Neoplasm
Bone marrow hypercellularity, Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, N... ORPHA:98849
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Ovarian Dysgenesis 7
Delayed puberty, Decreased serum estradiol, Elevated circulating follicle stimulating hormone lev... OMIM:618117
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogona... OMIM:614840
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Invasive Mole
Menometrorrhagia ORPHA:99925
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Thrombocytosis, Angina pectoris, Verti... ORPHA:729
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit... ORPHA:3260
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytos... OMIM:614470
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hepatomegaly, Diarrhea, Hirsutism, Asymmetric septal hypertrophy, Synophrys, Hearing... OMIM:252920
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Premature Ovarian Failure 8
Ovarian neoplasm, Elevated circulating follicle stimulating hormone level, Elevated circulating l... OMIM:615723
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level... OMIM:619834
Acute Panmyelosis With Myelofibrosis
Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Acute myeloid leukemia, Increase... ORPHA:86843
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Pleural effusion, Th... ORPHA:457077
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Wiskott-Aldrich Syndrome
Hematemesis, Chronic otitis media, Epistaxis, Hematochezia, Abnormal platelet morphology, Lymphop... ORPHA:906
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv... ORPHA:75508
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocyt... OMIM:619644
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Familial Thrombocytosis
Acute myeloid leukemia, Vertigo, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial... ORPHA:71493
Ovarian Dysgenesis 8
Decreased serum estradiol, Decreased cirrculating antimullerian hormone circulation, Elevated cir... OMIM:618187
Acromesomelic Dysplasia 3
Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati... OMIM:609441
Mucopolysaccharidosis Type 3
Chronic otitis media, Intermittent diarrhea, Mixed hearing impairment, Sensorineural hearing impa... ORPHA:581
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Absent proximal radial epiphyses, Forearm unde... OMIM:249600
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Decreased testicular size, Elevated circulating follicle... OMIM:612885
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hepatomegaly, Diarrhea, Hirsutism, Motor deterioration, Asymmetric septal hypertroph... OMIM:252930
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Joint stiffness, Metatarsus adductu... ORPHA:2249
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hepatomegaly, Recurrent otitis media, Intestinal pseudo-obstruction, Di... OMIM:309900
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Chronic otitis media, Genu valgum, Abnormal heart valve morpholog... ORPHA:583
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Hydrops fetalis, High palate, Ascites, Nephrotic syndrome... OMIM:269920
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Acrodysostosis
Abnormal female external genitalia morphology, Abnormal femur morphology, Short metacarpal, Hypog... ORPHA:950
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Cognitive impairment, Mesomelia, Spa... ORPHA:175
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Epistaxis, Splen... OMIM:139090
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Elevated circu... OMIM:619203
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
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Ovarian Dysgenesis 6
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Oculoskeletodental Syndrome
Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Elbow flexion contracture, Low posterio... OMIM:618440
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Poems Syndrome
Erectile dysfunction, Abnormality of the endocrine system, Ascites, Splenomegaly, Hypogonadism, E... ORPHA:2905
Hurler Syndrome
Cardiomyopathy, Flared iliac wing, Dermatan sulfate excretion in urine, Splenomegaly, Coxa valga,... OMIM:607014
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat... OMIM:273250
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Sensorineural hearing impairment, Cardiomyopathy, Large iliac wing,... OMIM:253220
Hurler Syndrome
Abnormal nerve conduction velocity, Chronic diarrhea, Hypertension, Cardiomyopathy, Splenomegaly,... ORPHA:93473
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Neurofibromatosis Type 1
Delayed puberty, Rhabdomyosarcoma, Spinal neurofibroma, Abnormality of the endocrine system, Pheo... ORPHA:636
Acquired Idiopathic Sideroblastic Anemia
Abnormal megakaryocyte morphology, Normochromic anemia, Anemia of inadequate production, Bone mar... ORPHA:75564
Premature Ovarian Failure 15
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Ir... OMIM:618096
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Mucopolysaccharidosis Type 1
Abnormal metaphysis morphology, Congestive heart failure, Chronic otitis media, Abnormal aortic v... ORPHA:579
Ivic Syndrome
Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulna... OMIM:147750
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hepatomegaly, Diarrhea, Hirsutism, Asymmetric septal hypertrophy, Synophrys, Hearing... OMIM:252900
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Palpebral edema, Short long bone, Flat acetabular roof, Flared iliac wing, Splen... OMIM:252500
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular ro... OMIM:271700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ... OMIM:615559
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria, Restrictive cardiomyop... ORPHA:160
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Abdominal pain, Hepatocellular ca... OMIM:235200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Obesity, Hypoalbuminemia ORPHA:88643
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Malakoplakia
Hematuria, Neoplasm of the rectum, Diarrhea, Abdominal pain, Skin rash, Dysuria, Urinary hesitanc... ORPHA:556
Perrault Syndrome 3
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:614129
Sweet Syndrome
Small vessel vasculitis, Acne, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic le... ORPHA:3243
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:231095
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:212840
Mirage Syndrome
Anemia, Hypospadias, Radial club hand, Patent ductus arteriosus, Achalasia, Adrenal hypoplasia, A... OMIM:617053
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating hepatic transaminase concentration, Hodgkin lymphoma, Splenomegaly, Reduced ... ORPHA:158057
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, My... ORPHA:486
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Anemia of inadequate production, Finger aplasia... OMIM:614900
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Ascites, Abnormal mast cell morphology, Pa... ORPHA:98850
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial e... OMIM:614702
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Lymphoma, Eczematoid dermatitis, Bone marrow hypocellularity... OMIM:616871
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Recurrent otitis media, Aortic regurgitation, Keratan sulfate excretion... ORPHA:423461
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Essential Thrombocythemia
Acute leukemia, Abnormal megakaryocyte morphology, Megakaryocyte nucleus hyperlobulation, Abnorma... ORPHA:3318
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Diarrhea, Ascites, Cognitive impairment, Hearing impairment, Cardiomegaly... ORPHA:858
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Sensorineural hearing impairment, Pulmonic stenosis, Leukopenia, Splenomegaly, ... OMIM:612541
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges... ORPHA:2256
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Dysplastic granulopoesis, Thrombocytopenia, Bone marrow arrest at the ... OMIM:620534
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple... ORPHA:90033
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Cardiomegaly, Adducted thumb, Hydrops fetalis, Hypospadias, Cleft palate, Posteriorly ro... OMIM:616897
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Van Bogaert-Hozay Syndrome
Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand OMIM:277150
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Mucopolysacchariduria, Broad thumb... ORPHA:585
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Infertility OMIM:604931
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Hypertension, Pericarditis, Chronic lymphatic leukemia, Vasculitis, ... ORPHA:91139
Mucopolysaccharidosis, Type Vi
Hypoplastic iliac wing, Sinus tachycardia, Cardiomyopathy, Flared iliac wing, Dermatan sulfate ex... OMIM:253200
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia... OMIM:607685
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Failure to thrive, Hypothyro... ORPHA:349
Klippel-Trénaunay Syndrome
Congestive heart failure, Tall stature, Hepatomegaly, Hematuria, Abnormal tricuspid valve morphol... ORPHA:90308
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Elevated circulating luteinizin... OMIM:229070
Neuraminidase Deficiency
Hepatomegaly, Hydrops fetalis, Epiphyseal stippling, Sensorineural hearing impairment, Cardiomyop... OMIM:256550
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Inflammatory abnormality of the eye, Sensorineural hearing impairment, S... ORPHA:36412
Mucopolysaccharidosis, Type Iiid
Tube feeding, Splenomegaly, Dysphagia, Hirsutism, Elbow flexion contracture, Hearing impairment, ... OMIM:252940
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Genu valgum, Keratan sulfate excretion in urine, Abnormal heart valve morphology, H... OMIM:253000
Junctional Epidermolysis Bullosa With Pyloric Atresia
Abdominal distention, Nail dystrophy, Polyhydramnios, Hematuria, Nausea and vomiting, Aplasia of ... ORPHA:79403
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Genu valgum, Keratan sulfate excretion in urine, Bilateral talipes equinovarus, Aor... OMIM:253010
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Hydrops fetalis, Abnormal hip bone morphology, Epiphyseal stippling, ... ORPHA:584
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Recurrent pneumonia, Recurrent sinusi... OMIM:619281
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Shortening of all distal phalanges of the fingers, Adducted thumb, Abdominal pain, EEG with multi... OMIM:616809
Chronic Graft Versus Host Disease
Nail dystrophy, Ascites, Dysphagia, Urinary bladder inflammation, Bronchiolitis obliterans, Anore... ORPHA:99921
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Hurler-Scheie Syndrome
Hepatomegaly, Aortic regurgitation, Hirsutism, Pulmonary arterial hypertension, Dermatan sulfate ... OMIM:607015
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Bowing of the long ... ORPHA:582
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Perimembranous ventricular septal defect, Hepatom... OMIM:608104
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Recurrent lower respiratory tract infect... OMIM:253250
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Ch... ORPHA:51
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Cognitive impairment, Dark urine, Edema, Abdominal pain, ... ORPHA:93552
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Abnormal heart morphology, Optic atrophy, Patent foramen ovale, Pulmonary arteri... ORPHA:505248
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Single transverse palmar cr... OMIM:227270
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Jaundice, Hepatomegaly, Male infertility, Secon... ORPHA:79239
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Shortening of... OMIM:619135
Thrombocytopenia 6
Bone marrow hypercellularity, Spontaneous, recurrent epistaxis, Myelofibrosis, Osteoporosis, Thro... OMIM:616937
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, J... ORPHA:1040
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Interstitial Cystitis
Abnormality of the bladder, Pollakisuria, Dysuria, Dyspareunia, Urinary urgency, Functional abnor... ORPHA:37202
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Myelofibrosis, Absence of alpha granules, Thrombocytopenia, Epistaxi... OMIM:187900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Abnormal male external genital... OMIM:400044
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Respiratory tract infection, Lymphope... OMIM:615897
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Proteinuria, Cor pulmonale, Sm... OMIM:215250
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Polyhydramnios, Hypospadias, Sandal gap, Hypoplasia of penis, Ascites, ... ORPHA:1046
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Sho... OMIM:186500
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic... OMIM:252600
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Glycogen Storage Disease Iv
Cirrhosis, Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Esophageal ... OMIM:232500
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, Urinary urgency, ... ORPHA:100985
Mucolipidosis Iii Gamma
Genu valgum, Flat capital femoral epiphysis, Aortic regurgitation, Claw hand deformity, Shoulder ... OMIM:252605
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Hypertension, Pituitary growth hormone cell adenom... OMIM:102200
Hepatic Veno-Occlusive Disease
Jaundice, Hepatomegaly, Abdominal pain, Increased body weight, Ascites, Renal insufficiency ORPHA:890
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal bone marrow cell morphology, Bence Jones Proteinu... ORPHA:100024
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro... OMIM:212780
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Reduced left ventricular eje... OMIM:201475
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... ORPHA:2557
Endocardial Fibroelastosis
Congestive heart failure, Low-set, posteriorly rotated ears, Sandal gap, Hypoplasia of penis, Ant... ORPHA:2022
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, S... ORPHA:3226
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte... ORPHA:90793
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... OMIM:617585
Boomerang Dysplasia
Abnormal bone ossification, Decreased response to growth hormone stimulation test, Abnormal femur... ORPHA:1263
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased B cell count, Molluscum contagiosum, Hepatospl... OMIM:618982
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Frontotemporal dementia, Memory impairment, Depr... ORPHA:100070
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem... ORPHA:99886
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Mega... OMIM:614172
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Dermatan sulfat... ORPHA:217093
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia... ORPHA:2491
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Dicarboxylic aciduria, Diarrhea, Microvesicular hepatic s... OMIM:212140
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Dermatan sulfat... ORPHA:217085
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Immunodeficiency 15B
Chronic oral candidiasis, Monocytosis, Reduced natural killer cell count OMIM:615592
Nephrosialidosis
Renal insufficiency, Ascites, Nephrotic syndrome, Pericardial effusion, Nephropathy OMIM:256150
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Erythroid hypoplasia, Acute myel... ORPHA:86841
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Hydrops fetalis, Broad long bone diaphyses, Sho... ORPHA:79255
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c... OMIM:618395
Hydrops Fetalis
Abnormality of the kidney, Abnormality of the gastrointestinal tract, Polyhydramnios, Capillary l... ORPHA:1041
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Sialidosis Type 2
Hepatomegaly, Hydrops fetalis, Ascites, Hearing impairment, Flexion contracture, Splenomegaly, Sk... ORPHA:87876
Scheie Syndrome
Hepatomegaly, Aortic regurgitation, Abnormal nerve conduction velocity, Sensorineural hearing imp... ORPHA:93474
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Broad thumb, Hearing impairment, Broad hallux, Splenomegaly,... OMIM:272200
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Cerebellar atrophy, Splenomegaly, Acute myelomonocy... ORPHA:2585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Osteopenia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Reticular pattern on... OMIM:614742
Ulnar-Mammary Syndrome
Stiff elbow, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd meta... OMIM:181450
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
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal bone marrow cell morphology, Pancytopenia... ORPHA:99812
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Gastroesophageal reflux, Chylopericardiu... ORPHA:2414
Epidermolysis Bullosa Acquisita
Nail dystrophy, Abnormal hair morphology, Abdominal pain, Inflammation of the large intestine, Di... ORPHA:46487
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Vertigo, Hypertension, Increased circulatin... OMIM:133100
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Absent toe, Ascites, Sparse hair, Short distal phalanx of finger, EE... ORPHA:974
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Unilateral renal agenesis, Hyperkeratosis, Testicular seminoma, Hypohidrosis, Hyp... ORPHA:281090
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder, Abnormal hallux morphology, Functional abnormality of the ... ORPHA:100997
Mucopolysaccharidosis, Type X
Genu valgum, Aortic regurgitation, Nephrolithiasis, Irregular acetabular roof, Dermatan sulfate e... OMIM:619698
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Short long bone, Ascites, Intestinal malrotation, Splenomegaly, Edema,... OMIM:269860
Neutrophilia, Hereditary
Granulocytic hyperplasia, Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Adult Idiopathic Neutropenia
Bone marrow hypercellularity, Abnormal bone marrow cell morphology, Granulocytic hypoplasia, Lymp... ORPHA:2688
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... OMIM:620632
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Lower limb undergrowth, Forearm undergrowth OMIM:218650
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Diarrhea, Abdominal pain, Increased level of L-pyrog... OMIM:260005
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin, Reticu... ORPHA:3261
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wav... OMIM:261740
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Failure to thrive, Hypoalbumine... OMIM:613752
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Hypospadias, Cryptorchidism, Micrognathia, Abse... ORPHA:96097
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomegaly, Acne, Erythema nod... OMIM:300635
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Abnormal T cell count, Abnormal B cell count OMIM:613495
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Urinary urgency, Skeletal muscle atrophy, Dysphagia, Lower limb muscle weakness OMIM:610250
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... OMIM:619868
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastrostomy tube feeding in infancy, Ankle flexion contracture, Gastroesophageal reflux, Type 1 m... OMIM:617519
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Fanconi Anemia, Complementation Group G
Anemia, Myelodysplasia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va... OMIM:308240
Kniest Dysplasia
Enlarged metaphyses, Abnormal cartilage collagen, Keratan sulfate excretion in urine, Delayed epi... ORPHA:485
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic... ORPHA:246
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Decreased sensory nerve conduction velocity, Hepatomegaly, Oral-phar... OMIM:615273
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,... ORPHA:615
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hyperkeratosis, Myelofibrosis, Low-set ears, Hypertrophic cardiomyopathy, E... OMIM:607721
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Recurrent... OMIM:617514
Aicardi-Goutieres Syndrome 9
Hypertension, Chilblains, Ascites, Pericarditis, Lower limb hypertonia, Left ventricular hypertro... OMIM:619487
Free Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria, Aplasia/Hy... ORPHA:834
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Nephrotic syndrome, Proteinu... OMIM:617006
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Hypoplastic spleen, Cerebellar atrophy, Agenesis of corpus callosum ORPHA:89844
B-Cell Expansion With Nfkb And T-Cell Anergy
Lymphoid hyperplasia, Increased B cell count, Splenomegaly OMIM:616452
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Villous atrophy, Hydrops fetalis, Polycystic kidney dysplasia, Low-set ears, Ascite... OMIM:608776
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Livedoid Vasculopathy
Ischemic stroke, Anemia, Pancytopenia, Abnormality of the peripheral nervous system, Hypertension... ORPHA:542643
Congenital Sialidosis Type 2
Polydactyly, Abnormality of the kidney, Optic atrophy, Hepatomegaly, Generalized hypertrichosis, ... ORPHA:93400
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Increased circulating gonadotropin level ORPHA:399805
Generalized Eruptive Histiocytosis
Leukemia, Pruritus, Hypereosinophilia, Histiocytosis, Maculopapular exanthema ORPHA:157991
Shigellosis
Cholestasis, Paralytic ileus, Myocarditis, Acute kidney injury, Anorexia, Hemolytic-uremic syndro... ORPHA:810
Alpha-Heavy Chain Disease
Hepatomegaly, Abdominal pain, Ascites, Splenomegaly, Malabsorption, Abnormal small intestine morp... ORPHA:100025
N Syndrome
Hypospadias, Hearing impairment, Neoplasm, Cryptorchidism, Leukemia OMIM:310465
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... ORPHA:1350
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Chron... ORPHA:98813
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Inherited Creutzfeldt-Jakob Disease
Irritability, Senile plaques, Global brain atrophy, Progressive forgetfulness, Neuronal loss in c... ORPHA:282166
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Frontotemporal cerebral atrophy, Irritability, Emotional blunting, Fronto... ORPHA:275864
Nasu-Hakola Disease
Acute leukemia, Irritability, Reduced bone mineral density, Memory impairment, Bone cyst, Limitat... ORPHA:2770
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Abnormal heart morphology, Syndactyly, Hypospadias, Hirsutism, Postaxial hand polyda... OMIM:175700
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Necrotizing Enterocolitis
Abdominal distention, Abnormal glucose homeostasis, Bradycardia, Abdominal rigidity, Diarrhea, Hy... ORPHA:391673
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycard... OMIM:602079
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Cirrhotic Cardiomyopathy
Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent... ORPHA:57777
Foxp1 Syndrome
Abnormality of the kidney, Hypoplastic helices, Recurrent otitis media, EEG abnormality, Prominen... ORPHA:391372
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Thrombocytopenia... OMIM:619151
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Decreased body weight, Ascites, Dehydration, Central hypothyroidism, Hypo... ORPHA:1667
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Memory impairment, Neuronal loss in central nervous system, Confusion, Astrocyt... ORPHA:204
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hy... OMIM:209950
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Hypothyroidism, Acute lymphoblastic leukemia, Thrombocytop... OMIM:606593
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Hepatomegaly, Protein-losing enteropathy, Polyhydramnios, Thyroid lymphangi... OMIM:235255
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Abnormality of the endocrine system, Cachexia, Abnormal intestine morphology, Spl... ORPHA:37042
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Urinary incontinence, Frontotemporal dementia, Memory impairment, Neurona... OMIM:600795
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Polyhydramnios, Esop... ORPHA:367
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Flat acetabular roof, Ascites, Mesomelia, Syndactyly, Sparse hair, Short distal ... OMIM:614091
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph... OMIM:608971
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Low-set ears, Ascites, Micronodula... OMIM:301045
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Dicarboxylic aciduria, Hepatomegaly, Fatigable weakness, Diarrhea, Cach... ORPHA:42
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ... ORPHA:3320
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Hepatomegaly, Intestinal lymphangiectasia, Recurrent lower respiratory tr... OMIM:226300
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Vasculitis, Arthritis, Ski... ORPHA:37748
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Vertigo, Hypertension, Cardiomyopathy, Upper limb muscle weakness, Hype... ORPHA:892
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Spider hemangioma, Adenocarcinoma of the large intestine, Cholestasi... ORPHA:171
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Rothmund-Thomson Syndrome
Aplastic anemia, Increased susceptibility to fractures, Osteopenia, Reduced bone mineral density,... ORPHA:2909
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Abnormal bone marrow cell morphology,... ORPHA:79456
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Distal ileal atresia, Polyhydramnios,... OMIM:267000
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Patent ductus arteriosus, Chro... OMIM:614576
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Hepatomegaly, Cardiomyopathy, Joint contracture, Splenomegaly, Hypogonadism, Fl... OMIM:608540
Pseudomyxoma Peritonei
Intestinal obstruction, Abnormal peritoneum morphology, Abdominal pain, Ascites, Constipation, In... ORPHA:26790
Babesiosis