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Gene: Esr2 MGI:109392

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Gene Summary

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

Order Alleles

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

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 cirrculating antimullerian hormone circulation, Decreased serum estradiol, 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
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility 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
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
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
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, 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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
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 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
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
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Plasminogen Activator Inhibitor-1 Deficiency
Menorrhagia OMIM:613329
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Hepa... ORPHA:98849
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly,... OMIM:301078
Invasive Mole
Menometrorrhagia ORPHA:99925
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur... OMIM:252920
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embol... ORPHA:3260
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Lymphoproliferati... OMIM:614470
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Essential Thrombocythemia
Myelofibrosis, Transient ischemic attack, Myocardial infarction, Myelodysplasia, Splenomegaly, Ab... ORPHA:3318
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Cardiomegaly, Synophrys, Flexion contracture, Atrioventricu... ORPHA:581
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Neoplasm, Hypoplasia ... ORPHA:906
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Maculopapular e... OMIM:619644
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Polycythemia Vera
Myelofibrosis, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hype... ORPHA:729
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... OMIM:618187
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Flexion contracture, Hepatomegaly, Papilledema, Split hand, Hepato... OMIM:309900
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Myelodysplasia, Pruritus, Sple... ORPHA:71493
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Splenomegaly, Recurrent upper r... ORPHA:583
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Mental Retardation Syndrome, Mietens-Weber Type
Absent proximal radial epiphyses, Elbow flexion contracture, Forearm undergrowth, Dislocated radi... OMIM:249600
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Sparse hair, Lo... ORPHA:175
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Low anterior hairline, Cough, Chronic otitis media, Generalized hirsutism, Spli... ORPHA:579
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Syn... OMIM:252930
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... ORPHA:2249
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, N... OMIM:269920
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Mucopolysaccharidosis, Type Vii
Flexion contracture, Hydrops fetalis, Coarse hair, Narrow greater sciatic notch, Large iliac wing... OMIM:253220
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... ORPHA:1856
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Gray Platelet Syndrome
Myelofibrosis, Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocy... OMIM:139090
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyur... ORPHA:449395
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Hurler Syndrome
Progressive neurologic deterioration, Metaphyseal widening, Flexion contracture, Endocardial fibr... OMIM:607014
Hurler Syndrome
Endocardial fibroelastosis, Abnormal nerve conduction velocity, Generalized hirsutism, Hepatomega... ORPHA:93473
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Renal agenesis, Cryptorchidism, Splenomegaly, Low anteri... OMIM:618440
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Br... OMIM:616005
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
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
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Synophrys, Recurrent up... OMIM:252900
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider... ORPHA:75564
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Premature Ovarian Failure 15
Elevated circulating follicle stimulating hormone level, Irregular menstruation, Oligomenorrhea, ... OMIM:618096
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Abdominal... OMIM:235200
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnormality of the menstru... ORPHA:556
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Mucolipidosis Ii Alpha/Beta
Brittle hair, Cardiomegaly, Metaphyseal widening, Sparse hair, Hepatomegaly, Sparse eyebrow, Spli... OMIM:252500
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly ORPHA:88643
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... OMIM:271700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:614129
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Castleman Disease
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyper... ORPHA:160
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... OMIM:231095
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinoph... ORPHA:486
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Gordon Holmes Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhea OMIM:212840
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Precocio... ORPHA:636
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Fetal Cytomegalovirus Syndrome
Splenomegaly, Sensorineural hearing impairment, Anemia, Hepatomegaly ORPHA:294
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Anemia of inadequate production, Absent thumb, Unilateral radial aplasia,... OMIM:614900
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... OMIM:602471
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Poems Syndrome
Sclerosis of hand bone, Hypothyroidism, Polycythemia, Papilledema, Sclerosis of foot bone, Abnorm... ORPHA:2905
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto... OMIM:616871
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Feedi... OMIM:614702
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Hypocomplementemic Urticarial Vasculitis
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Abdominal pain, Pericard... ORPHA:36412
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia ... ORPHA:2256
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hepatomegaly, Tricuspid regurg... OMIM:253200
Aggressive Systemic Mastocytosis
Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosple... ORPHA:98850
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Diarrhea, Jaundice, Cognitive impairmen... ORPHA:858
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Myelodysplasia, Adrenal hypoplasia, Radial club hand... OMIM:617053
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Abnormality of the menstrual cycle, Pulmonary e... ORPHA:90308
Mucopolysaccharidosis, Type Iiid
Synophrys, Coarse hair, Hepatomegaly, Low-set ears, Tube feeding, Hirsutism, Heparan sulfate excr... OMIM:252940
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Coxa valga, Epiphyseal deformities of tubular bone... OMIM:253000
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, S... ORPHA:90033
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux phalanx, Splenomegaly, Sensorineural hearing impairment, Optic atrophy... ORPHA:585
Simple Cryoglobulinemia
Myocardial infarction, Progressive neurologic deterioration, Abnormal lung morphology, Nephritis,... ORPHA:91139
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia OMIM:277150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Large fleshy ears, Micropenis... OMIM:616897
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Conjunctivitis, Atrial septal defect, Patent foramen o... ORPHA:505248
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder, Restrictive card... OMIM:607685
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Pointed proximal second through fifth metacarpals, Coxa valga, Epiphyseal deformiti... OMIM:253010
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis,... ORPHA:349
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Camptodactyly of finger, Th... OMIM:607015
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alo... ORPHA:99921
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... OMIM:256550
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Polyhydramnios, Knee flexion contracture, Vomiting, High palate, Clinodactyly of the 5th finger, ... OMIM:616809
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Metatarsus adductus, Sp... ORPHA:584
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Vomiting, Nephritis, Alopecia, Abdominal pain, Pericardial effusion, Raynaud phe... ORPHA:93552
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... OMIM:619281
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Nausea and vomiting, Recurrent skin infections, Polyhydramni... ORPHA:79403
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal heart valve morphology, Coxa valga, Genu valgum, Mucopolysacch... ORPHA:582
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Micropenis, Hypothyroidism, Chilblains, Rayn... ORPHA:51
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis... OMIM:201475
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Poorly ossified vertebrae, Sh... OMIM:619135
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Microglossia, Myocardial fibrosis, Hydrops ... OMIM:253250
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Sandal gap, Polyhydramnios, Renal hypoplasia/aplasia, Splenomeg... ORPHA:1046
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Increased body weight, Respiratory f... ORPHA:890
Thrombocytopenia 6
Myelofibrosis, Spontaneous, recurrent epistaxis, Bone marrow hypercellularity, Osteoporosis, Thro... OMIM:616937
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... 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
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle, Abnormality of the urethra, Urinary bladder infl... ORPHA:37202
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Decreased circulating T4 concentration, Cryptorchidism, Diarrhea, Abdominal ... OMIM:608104
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Sensorineural hearing impairment, Radioulnar synostosis, Joint cont... OMIM:194350
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothr... OMIM:187900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Cor pulmonale, Macronodular cirrhosis, Nephrotic syndrome... OMIM:215250
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Immunodeficiency 24
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Respiratory tract infection, Reduced propo... OMIM:615897
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Distal amyotrophy, Cognitive impairment, Leg muscle stiffness, Urinary bladder s... ORPHA:100985
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... ORPHA:2878
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... ORPHA:217093
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... OMIM:212780
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius,... ORPHA:1263
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... ORPHA:217085
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Confusion, Cardiomegaly, Congestive he... OMIM:212140
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Dyspnea, Flexion contracture, Hydrops fetali... ORPHA:87876
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Mietens Syndrome
Hypoplasia of the ulna, Joint stiffness, Elbow dislocation, Metatarsus adductus, Coxa valga, Hypo... ORPHA:2557
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoglycemia, Sandal gap, Cryptorchidism,... ORPHA:2022
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Vertigo,... ORPHA:3226
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Edema, Polyhydramnios, Portal hypertension, Esophageal varix, Hydrops fe... OMIM:232500
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph... OMIM:619924
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Rhinitis, Muc... ORPHA:93474
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocyt... OMIM:614172
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Cryptorchidism, Leuk... ORPHA:99812
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent up... OMIM:617585
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Hydrops fetalis, Hepatosplenomegaly, Feeding difficulties, Macroglossi... ORPHA:79255
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in... OMIM:619698
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis OMIM:615592
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Small for gestational age, Abnormality of the kidney, ... ORPHA:1041
Nephrosialidosis
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites OMIM:256150
Adult Idiopathic Neutropenia
Granulocytic hypoplasia, Bone marrow hypercellularity, Abnormal neutrophil count, Abnormal bone m... ORPHA:2688
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux, Periorbital edema, Splenomegaly, Mucopolysacchariduria, Rapid neurolo... OMIM:272200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Delayed ossification of ca... OMIM:618395
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Incr... OMIM:618982
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Short-Rib Thoracic Dysplasia 12
Edema, Polyhydramnios, Bowing of the legs, Lobulated tongue, Short palm, Patent foramen ovale, He... OMIM:269860
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... ORPHA:86841
Epidermolysis Bullosa Acquisita
Diabetes mellitus, Abdominal pain, Abnormal hair morphology, Inflammation of the large intestine,... ORPHA:46487
Adams-Oliver Syndrome
Sparse hair, Pulmonary artery atresia, Finger syndactyly, Alopecia, Portal hypertension, Congenit... ORPHA:974
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B... ORPHA:3261
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... ORPHA:2616
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morpholog... ORPHA:2585
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Neonatal hypoglycemia, Cardiomegaly, Pericard... OMIM:261740
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Vertigo, Increased hemoglobin, Increase... OMIM:133100
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual int... OMIM:614742
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder, Functional abnormality of the gastrointestinal tract, Abno... ORPHA:100997
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-py... OMIM:260005
N Syndrome
Hypospadias, Cryptorchidism, Neoplasm, Leukemia, Hearing impairment OMIM:310465
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Micrognathia, Absent thumb, Cryptorchidism... ORPHA:96097
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth OMIM:218650
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Facial hypotoni... OMIM:615273
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Aortic regurgitation, Joint laxity, Posteriorly rotated ears, Eczema, Cryptorchidi... OMIM:607721
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Ascites, Abnormal... OMIM:608776
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Recurrent infection... OMIM:617519
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Granulocytic hyperplasia, Myelodysplasia OMIM:162830
Necrotizing Enterocolitis
Shock, Small for gestational age, Apnea, Edema, Abdominal distention, Diarrhea, Peritonitis, Abno... ORPHA:391673
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Polyhydra... ORPHA:367
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Chilblains,... OMIM:619487
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum... OMIM:300635
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Urinary urgency, Distal amyotrophy, Dysphagia, Lower limb muscle weakness OMIM:610250
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splen... ORPHA:100025
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin... ORPHA:542643
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Dehydration, Hypovol... ORPHA:810
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... ORPHA:246
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Proteinuria, Spleno... ORPHA:834
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Hypoplastic spleen, Agenesis of corpus callosum, Low-set ears ORPHA:89844
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Abnormality of the kidney, Edema, Protruding tongue, Respiratory trac... ORPHA:93400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short attention span, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulat... ORPHA:171706
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiti... ORPHA:37042
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hypohidrosis, Hyp... ORPHA:281090
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Resp... ORPHA:26790
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Lymphoid hyperplasia, Increased B cell count OMIM:616452
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Progressive forgetfulness, Astrocytosis, Central nervous system ... ORPHA:282166
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu... ORPHA:42
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:616050
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Irritability, Inappropria... ORPHA:275864
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Prominent fingertip pads, Diabetes mellitus, Recurrent skin infections, Abn... ORPHA:391372
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... OMIM:153600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell coun... ORPHA:98813
Nasu-Hakola Disease
Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Frontal lo... ORPHA:2770
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Pedal edema, Nephrocalcinosis, Gast... ORPHA:342
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Metaphyseal dysplasia, Neonatal insulin... ORPHA:1667
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the... OMIM:619151
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Hypertension, Neut... OMIM:602079
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Small for gestational age, Ventricular septal defect, Nonimmune hydrops fetalis... OMIM:617021
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane... ORPHA:2909
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Sporadic Creutzfeldt-Jakob Disease
Confusion, Cerebral atrophy, Astrocytosis, Dementia, Gliosis, Cognitive impairment, Memory impair... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Frontotemporal dementia, Astrocytosis, Inappropriate behavior, Memory impai... OMIM:600795
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Va... ORPHA:37748
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Pulmonary embolism, Malabsorption, Abdominal pain, D... OMIM:226300
Von Hippel-Lindau Disease
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Abnormal left ventri... ORPHA:892
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decreased liver function, Low-set ea... OMIM:301045
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Cr... OMIM:235255
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Micromelia, Hydrops fetalis, Renal cyst, High palate, Hepatic fibrosis, Sparse hair, Syndactyly, ... OMIM:614091
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi... OMIM:209950
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag... OMIM:615993
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary ... OMIM:601186
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Peau d'orange, Ventricular septal defect, Unilateral renal agenesis, Postaxial poly... OMIM:614576
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Feeding diffic... OMIM:618654
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolapse, Hypoplasia... OMIM:613177
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Abnormal lung morphology, Osteolysis involving bones of the upper limbs, ... ORPHA:464321
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Abnormal bone mar... ORPHA:79456
Chondrodysplasia Calcificans Metaphysealis
Metaphyseal dysplasia, Mucopolysacchariduria, Metaphyseal chondrodysplasia OMIM:215050
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Hypospadias, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morpho... OMIM:175700
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Cryptorc... OMIM:606593
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... ORPHA:2137
Perlman Syndrome
Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic h... OMIM:267000
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe... OMIM:614602
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cerebral atrophy, Cardiomyopathy, Hypogonadism, ... OMIM:608540
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Generalized amyotrophy, Neop... ORPHA:171
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Confusion, Myocardial infarction, Congestive... ORPHA:108
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Elevated proportion of CD4-negati... OMIM:619802
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Zygomycosis
Fasciitis, Sinusitis, Rhinorrhea, Periorbital edema, Acute infectious pneumonia, Unusual gastroin... ORPHA:73263
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Wilson Disease
Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Aminoaciduria, Vomiting, Hepatic steat... OMIM:277900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Decreased nerve conduction velocity, Thrombocytopenia, Acute my... OMIM:159550
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Feeding difficulties, Bilateral coxa valga, Intermittent diarrhea, Hypertrophic cardiomy... OMIM:620270
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural e... OMIM:603278
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Squamous cell carcinoma, Neutropenia, Hypothyroidism, Calcinosis, Pr... ORPHA:221008
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Splenomegaly, Aplasia/Hypoplasia of the lungs, Abno... ORPHA:2204
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abn... ORPHA:33226
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis OMIM:613860
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Hyperkeratosis, Multiple lipomas, Hemangioma, Lipoma, Calv... OMIM:176920
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Lower limb muscle weakness OMIM:613364
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Recurrent resp... OMIM:618986
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega... OMIM:226990
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Spastic/hyperactive bladder, Abnormality of somatosensory evoke... ORPHA:101007
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Infertility, Oligomenorrhea ORPHA:280356
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:268310
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i... OMIM:613101
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... OMIM:619433
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Dyspnea, Abdominal distention, Renal cyst, Ascites OMIM:174050
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... OMIM:619991
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness ORPHA:488594
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Pruritus, Vertigo, Polycythemia ORPHA:90042
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Constipat... ORPHA:85447
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Hematuria, M... OMIM:185070
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Leukemia, Vasculitis ORPHA:90026
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragm... OMIM:200980
W Syndrome
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... ORPHA:2804
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Abn... ORPHA:284227
Tyrosinemia, Type I
Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hepatomegaly, A... OMIM:276700
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se... OMIM:615300
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... ORPHA:90068
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Progressi... ORPHA:796
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis OMIM:619164
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... OMIM:616868
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency, Dysphagia OMIM:619027
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Chronic ... ORPHA:90280
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pancreatic lymphangiecta... ORPHA:1655
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Ventricular se... OMIM:243150
Immunodeficiency 43
Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni... OMIM:241600
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Coxa... ORPHA:2848
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phospha... ORPHA:562
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Apnea, Cardiomegaly, Feeding difficulties in infancy, Increased muscle lipi... OMIM:608836
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... ORPHA:507
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Clinodactyly, Micrognathia ORPHA:357175
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Alg8-Cdg
Abnormality of the gastrointestinal tract, Brachydactyly, Small for gestational age, Edema, Diarr... ORPHA:79325
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Feeding difficulties, EEG abnormality, Reduced left ventr... OMIM:614096
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Complete Androgen Insensitivity Syndrome
Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, In... ORPHA:99429
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... ORPHA:79259
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Patent ductus arteri... ORPHA:2123
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Abnormal peritoneum morphology, Test... ORPHA:83469
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom... OMIM:604250
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice... ORPHA:779
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, ... ORPHA:84064
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Clinodactyly, Micrognathia OMIM:615162
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai... ORPHA:2070
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ... OMIM:619041
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, H... ORPHA:97282
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Anemia, Thr... OMIM:610539
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abnormal pericardium morphology, Abdominal p... ORPHA:67
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Hepatosplenomegaly, Arthritis, Sterile... OMIM:604416
Autosomal Recessive Spastic Paraplegia Type 15
Diabetes mellitus, Frontotemporal dementia, Functional abnormality of the bladder, Upper limb mus... ORPHA:100996
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro... OMIM:212050
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Large ... ORPHA:276580
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema ORPHA:1160
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Anorexia, Abdominal pain, Pericardial effusion, Splenomegaly, Osteoart... ORPHA:77259
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Leukocyte Adhesion Deficiency
Otitis media, Vaginitis, Polycythemia, Perianal abscess, Respiratory tract infection, Leukocytosi... ORPHA:2968
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Congenital sensorineural hearing impairment, Diarr... OMIM:606528
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Apnea, Feed... OMIM:619048
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Niemann-Pick Disease, Type A
Hepatomegaly, Skeletal muscle atrophy, Recurrent respiratory infections, Feeding difficulties in ... OMIM:257200
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Combined Oxidative Phosphorylation Deficiency 5
Posteriorly rotated ears, Edema, Low-set ears, Hypertrophic cardiomyopathy, Ascites, Abnormal ren... OMIM:611719
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Recurrent skin infections, Joint stiffness, Splen... OMIM:620210
Lymphangioleiomyomatosis
Abnormal urinary color, Lymphedema, Cough, Emphysema, Renal neoplasm, Abdominal pain, Atelectasis... ORPHA:538
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Bundle branch block, Short attention span, Neonatal respiratory distress, Facial hy... ORPHA:589821
Erythrocytosis, Familial, 4
Pruritus, Increased hemoglobin, Increased hematocrit, Polycythemia, Elevated circulating erythrop... OMIM:611783
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Nephroblastoma, Large earlobe, Leukemia, Meningioma OMIM:602501
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Clubbing of fingers, Inflammation of the large... OMIM:615767
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Joint hypermobility, Pancreatic st... OMIM:617052
Wolman Disease
Nausea and vomiting, Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Abdominal diste... ORPHA:75233
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Dehydration, Vomitin... ORPHA:275761
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Feeding difficulties in infancy, Splenomegaly, M... OMIM:251880
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita... OMIM:602450
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormo... ORPHA:2796
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract... OMIM:618183
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Large for gestational age... ORPHA:276575
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Carcinoid tumor, Nausea, Biliary tract... ORPHA:100085
Cln3 Disease
Acne, Mental deterioration, Optic atrophy, Increased circulating androgen concentration, T-wave i... ORPHA:228346
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97283
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Feed... OMIM:617137
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension... ORPHA:79124
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Pulmonary fibros... OMIM:614743
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, O... ORPHA:514
Pseudo-Torch Syndrome 2
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal de... OMIM:617397
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropi... ORPHA:465508
Bardet-Biedl Syndrome 5
Syndactyly, Obesity, Hypogonadism, Polydactyly, Cognitive impairment, Micropenis, Brachydactyly OMIM:615983
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Vertigo, Sensori... OMIM:193300
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Eczema, Abdominal pain, Splenomegaly, Lymphadenitis, Chron... OMIM:615895
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Renal insufficiency, Epistaxis, Albinism, Abdominal pain, Hematochezia,... OMIM:203300
Infection-Related Hemolytic Uremic Syndrome
Anuria, Edema, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infa... ORPHA:544482
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger... OMIM:616738
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Posteriorly rotated ears, Joint hypermobility, Supernumerary nipple, Myelodysplasia, Camptodactyl... OMIM:619951
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Progressive neurologic deterioration, Flexion contracture, Adult onset s... ORPHA:90324
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Neoplasm, He... ORPHA:116
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating aspartate aminotrans... OMIM:614034
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ... ORPHA:2741
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, F... OMIM:600920
Lymphatic Malformation 6
Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial ed... OMIM:616843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... ORPHA:543
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97280
Ogden Syndrome
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Protr... OMIM:300855
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating luteinizing hormone level, Congestive... OMIM:617253
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Lymphoma, Bronchiectasis, Decreased pro... OMIM:619126
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Gracile Bone Dysplasia
Asplenia, Micropenis, Decreased skull ossification, Hypoplastic spleen, Ascites OMIM:602361
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Lym... ORPHA:2584
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N... ORPHA:333
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Apnea, Edema, Cardiomegaly, Polyhydram... ORPHA:79330
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... ORPHA:84
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros... ORPHA:276556
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra... ORPHA:2307
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Pe... ORPHA:90362
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Lymphoma, Bronchiectasis, Ho... OMIM:208900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Bloom Syndrome
Bronchitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased proportion of CD4-positive ... ORPHA:125
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarr... ORPHA:436159
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter... ORPHA:860
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative co... OMIM:618394
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga... ORPHA:99413
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu... OMIM:615996
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga... ORPHA:881
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Abnorm... ORPHA:158061
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Progressive neurologic deterioration, Cryptorchidism, Sensorineural hearing impairme... ORPHA:1192
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Astrocytosis, Upper limb muscle weakness, Atrophy/Degeneration involving the cauda... ORPHA:225154
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Proteinuria, Progressive neurologic deterioration, Large for gestation... ORPHA:263455
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia ORPHA:2582
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ... ORPHA:99867
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Lead Poisoning
Abnormal T cell morphology, Tubulointerstitial nephritis, Decreased male libido, Cranial hyperost... ORPHA:330015
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat... ORPHA:563
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, P... OMIM:227646
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal s... ORPHA:244
Acro-Renal-Ocular Syndrome
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Cryptococcosis
Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymph... ORPHA:1546
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Functional abnormality of the bladder, Patent foramen ovale, Infectious encephal... ORPHA:391487
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Conjunctivitis,... ORPHA:99827
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Hypoglycemia, Cardiomegaly, Bronchit... OMIM:601005
Reactive Arthritis
Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Osteomyelitis, Abnormal p... ORPHA:29207
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Polyhydramnios, Synophrys, Flexion contracture, High palate, Generalized am... OMIM:620369
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pancreatic fibrosis, Pancreatic cysts, Early ossification of capital femo... OMIM:208500
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Myelodysplasia, Sensorineural hearing impairment, Acute lymphoblastic leukemia, Neutropenia, Cond... OMIM:610738
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Jaundice, Depression, Hypertension, Increased... OMIM:121300
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema, Recurrent pneumonia, Oligosacchariduria, Constipation, Gastroesophageal... ORPHA:3137
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Micromelia, Post... OMIM:200995
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Large for gestational age, Poly... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Senso... OMIM:619737
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutr... OMIM:603552
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Osteoporosis, Lambdoidal craniosynostosis OMIM:615398
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Gastroesophageal reflux, Vomiting, High palate, Cough, Emphysema, Hepatic steatosis, P... OMIM:613658
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint laxity, Facial hypotonia, Astrocytosis, Nephrocalcinosis, Diabetes insipidus OMIM:611087
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La... ORPHA:324575
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia OMIM:618805
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia OMIM:613280
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Felty Syndrome
Hepatomegaly, Pericarditis, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Rec... ORPHA:47612
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis OMIM:607341
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom... ORPHA:381
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Facial palsy, Anemia, Bone marrow hypocellularity, Thromboc... OMIM:616435
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Fumarase Deficiency
Necrotizing enterocolitis, Increased urine succinate level, Bilateral fetal pyelectasis, Polyhydr... OMIM:606812
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Sotos Syndrome
High, narrow palate, Increased body weight, Glucose intolerance, Gastroesophageal reflux, High pa... OMIM:117550
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... ORPHA:400
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large f... OMIM:239850
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Shox-Related Short Stature
Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lo... ORPHA:314795
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Flexion contracture... OMIM:227645
Sepsis In Premature Infants
Abnormal mucociliary clearance, Edema, Gastrointestinal dysmotility, Vomiting, Hepatomegaly, Olig... ORPHA:90051
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... OMIM:143095
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Respiratory distress, Microvesicular hepatic stea... OMIM:256810
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal i... OMIM:602347
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Mosaic Variegated Aneuploidy Syndrome
Apnea, Polyhydramnios, Abnormal lung lobation, Clinodactyly of the 5th finger, Atrial septal defe... ORPHA:1052
Porphyria Due To Ala Dehydratase Deficiency
Confusion, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced be... ORPHA:100924
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Atrial septal defect, Atrioventricular c... OMIM:619573
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb OMIM:179250
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Vomiting, Hepatomegaly, Sc... ORPHA:26791
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, Vo... ORPHA:264580
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, R... OMIM:227650
Hsd10 Disease, Infantile Type
Hypoglycemia, Cardiomegaly, Gastrointestinal dysmotility, Optic atrophy, Dysphagia, Hypertrophic ... ORPHA:391428
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he... ORPHA:99828
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopath... ORPHA:86893
Generalized Arterial Calcification Of Infancy
Respiratory distress, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis... ORPHA:51608
Neonatal Lupus Erythematosus
Parakeratosis, Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Ne... ORPHA:398124
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Autosomal Spastic Paraplegia Type 72
Memory impairment, Urinary bladder sphincter dysfunction ORPHA:401849
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... ORPHA:552
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Tapered finger, Feeding difficulties in infancy, Cryptorchidism, Synophrys, Recurrent upper respi... ORPHA:589905
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Feeding difficulties in infancy, Flexion contracture, Oligosa... ORPHA:365
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
48,Xxyy Syndrome
Hypoplasia of penis, Apnea, Feeding difficulties in infancy, Abnormal shoulder morphology, Gastro... ORPHA:10
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Elevated circula... ORPHA:97685
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypoglycemia, Abdominal distention, Increas... ORPHA:369
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... OMIM:619534
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Pruritus, Splenomegaly,... ORPHA:98848
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, ... ORPHA:79083
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Abdo... ORPHA:567546
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Dyspnea, Pedal edema, Weight loss, Ascites ORPHA:168811
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa... ORPHA:85450
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Reticulocytopenia, ... OMIM:600901
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Autosomal Dominant Progressive External Ophthalmoplegia
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Glucose intolerance, Abnormality of ... ORPHA:254892
Bloom Syndrome
Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Recurrent upper respirat... OMIM:210900
Hennekam Syndrome
Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Sparse axillary hai... ORPHA:2136
Spinocerebellar Ataxia Type 25
Urinary urgency, Vomiting, Episodic abdominal pain, Facial myokymia ORPHA:101111
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Chronic oral candidiasis, Recur... ORPHA:276
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Irritability, Thrombocytopenia OMIM:615010
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune th... OMIM:613179
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Hepatocellular carcinoma, Splenomeg... OMIM:232220
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism, Sensorineural hearing impairment, Pulmonic sten... OMIM:613224
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Sarcoidosis, Susceptibility To, 1
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland... OMIM:181000
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchie... OMIM:301220
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia OMIM:618969
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vomiting, Macrovesic... OMIM:600649
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... ORPHA:75565
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Obesity, Urinary urgency, D... OMIM:604360
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of... ORPHA:97214
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren... OMIM:618935
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Diarrhea, Feeding difficulties, Renal tubular ... OMIM:255120
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Hyperammonemia, ... ORPHA:292
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatarsal, Protruding... ORPHA:96148
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow... OMIM:108720
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden... ORPHA:397596
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Confusion, Erythema nodosum, Thrombocytopenia, ... ORPHA:3392
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lym... ORPHA:69735
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Calcinosis, Aplastic ane... ORPHA:221016
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Clinodactyly of the 5th finger, M... OMIM:243800
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnor... ORPHA:2357
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Incre... ORPHA:276608
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Gli... OMIM:203700
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Feeding difficulties in infancy, Obesity, Enuresis, Attention defic... OMIM:613670
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colon... OMIM:617638
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI signal intensity, Ate... ORPHA:258
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Lymphedema, Atrioventricular block, A... ORPHA:324
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Sudden cardiac death, Chron... OMIM:614921
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Posterio... OMIM:300280
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Generalized edema, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycy... ORPHA:64739
Arthrogryposis, Distal, Type 2A
Polyhydramnios, Feeding difficulties in infancy, Knee flexion contracture, High palate, Spina bif... OMIM:193700
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, S... OMIM:211600
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis ORPHA:46488
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent... OMIM:620282
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... ORPHA:94065
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Poor appetite, Abnormal sacroilia... ORPHA:324964
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Functional abnormality of the bladder, Protruding ear, High palate, Low-se... ORPHA:2953
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima... ORPHA:227990
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, Tapered finger, Cryptorchidism, Obesity, EEG abnormality,... ORPHA:85282
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Spastic Paraplegia Type 7
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle weakness, Urinary u... ORPHA:99013
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi... OMIM:246700
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Alg1-Cdg
Cardiomyopathy, Limitation of joint mobility, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Postaxial hand... OMIM:615630
Primary Myelofibrosis
Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hy... ORPHA:824
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia ORPHA:168816
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Frontotemporal dementia, Cranial ... ORPHA:52430
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De... OMIM:611590
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly,... ORPHA:79301
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... ORPHA:525731
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasi... OMIM:300755
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Absence of lymph node germinal center, Recurre... ORPHA:277
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Autoimmune hypoparathyroidism, Leukopenia, Tubulointerstitial nephritis, Hashimoto th... ORPHA:227982
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi... OMIM:602875
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... OMIM:209920
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Jaundice, Sensorineural hearing i... ORPHA:540
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Renal insufficiency, C... ORPHA:2377
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Hearin... OMIM:274300
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... OMIM:260400
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma OMIM:247640
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal morphology of... ORPHA:2633
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Torticollis, Metrorrhagia, Pelvic mass, Anorexia, ... ORPHA:370348
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hyp... ORPHA:2298
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Int... ORPHA:90363
Ovarian Hyperstimulation Syndrome
Ascites, Nausea, Abdominal pain OMIM:608115
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Intellectual Developmental Disorder, X-Linked 90
Enuresis, High palate, Bifid uvula, Attention deficit hyperactivity disorder OMIM:300850
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol... ORPHA:99931
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cardiomyopathy, Organic aciduria, Constipation, Arrhythmia ORPHA:35
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati... OMIM:218600
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu... OMIM:613390
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Osteoarthritis, Cardiomyopathy, Impotence, Cirrhosis, Arrhythmia... OMIM:606069
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Splenomegaly,... ORPHA:79240
Trisomy 10P
Decreased muscle mass, EEG with focal spikes, Gastroesophageal reflux, High palate, Abnormal hip ... ORPHA:171929
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Respiratory tract infection, Chronic diarrhea, Recurrent pneumonia,... OMIM:616433
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Gastroesophageal reflux, Clinodactyly of t... OMIM:619293
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Anorexia, Lacticaciduria, Aminoaciduria, Respiratory failure, ... OMIM:619386
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Posteriorly rotated ears, Hypospadias, Nephroblastom... OMIM:257300
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Confusion, Cardiomegaly, Hearing impairment, Diarrhea, Sensorineural hearin... OMIM:105210
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive ORPHA:99852
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:95619
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... ORPHA:829
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Neoplasm, Cognit... ORPHA:172
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Obe... OMIM:615981
Smith-Magenis Syndrome
Brachydactyly, Abnormality of the thyroid gland, Synophrys, Abnormal renal morphology, Velopharyn... OMIM:182290
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... ORPHA:3115
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ollier Disease
Chondrosarcoma, Joint stiffness, Precocious puberty, Visceral angiomatosis, Osteolysis, Multiple ... ORPHA:296
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepatosplenomegaly, A... OMIM:615122
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Pancytopenia, Hypospadias, Single transverse palmar crease, Ab... OMIM:210600
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Limb-girdle muscle weakness, Sensorineura... ORPHA:1215
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Brain neoplasm, Frontotemporal dementia, Temporal cortica... ORPHA:100070
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... ORPHA:2041
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, Gastroesophageal ... ORPHA:444077
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Facial edema, Periorbital edema, Fulminant hepatitis, Odynophagia... ORPHA:319213
Noonan Syndrome 8
Curly hair, Failure to thrive, Ventricular septal defect, Eczema, Polyhydramnios, Large for gesta... OMIM:615355
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility OMIM:619013
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, A... ORPHA:464329
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cerebellar atrophy, Splenomegaly, Cere... OMIM:610333
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment OMIM:520000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, High, narrow palate, Red-brown urine, Tubulointerstitial nephritis, He... ORPHA:228308
Malonyl-Coa Decarboxylase Deficiency
Neonatal respiratory distress, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Abdom... OMIM:248360
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Aspiration pneumonia, Urinary urgency, Urinary retention, Constipation, Cogn... ORPHA:99027
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nephrotic syndrom... OMIM:618999
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Facial palsy, R... OMIM:611490
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Optic atrophy, Upper limb muscle weakness, Urinary urgency, Lower limb hype... OMIM:607259
Bardet-Biedl Syndrome 1
High, narrow palate, High palate, Hepatic fibrosis, Micropenis, Syndactyly, Abnormality of the ki... OMIM:209900
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... OMIM:240900
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Cerebral atrophy, Irritability OMIM:612126
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Spider hemangioma, Chronic pancreat... OMIM:232240
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Short dista... ORPHA:52
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Abnormal morphology of ulna, Obesity, Decreased fertility, Mitral valve p... ORPHA:2233
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Congestive heart failure, Abnormalit... ORPHA:2348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl... ORPHA:26793
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Noonan Syndrome 2
Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Hypertrophic ... OMIM:605275
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun... ORPHA:2394
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
48,Xxxy Syndrome
Hypoplasia of penis, Pulmonary embolism, Gastroesophageal reflux, Chronic otitis media, Clinodact... ORPHA:96263
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Leukopenia, Hyposp... OMIM:305000
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyper... ORPHA:358
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Eosinophilia, Eczema, Splenomegaly, ... OMIM:616651
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Wide anterior fontanel, Synophrys, Long... OMIM:619064
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropen... ORPHA:79312
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Conductive hearing impairment, At... OMIM:201000
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypospadias, Eczema, Craniosynostosis, Abn... ORPHA:235
Wolfram Syndrome
Feeding difficulties in infancy, Male hypogonadism, Nephropathy, Abnormal mesentery morphology, R... ORPHA:3463
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Urinary incontinence, Cardiomegal... OMIM:268800
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, In... OMIM:215600
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, ... OMIM:301056
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber diamete... OMIM:125250
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Atrial septal de... ORPHA:398069
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphoma, Osteolysis, Lymphadenopathy, Hyperhidr... ORPHA:391
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral m... OMIM:613320
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction, Lower li... OMIM:603563
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Micrognathia, Aplasia o... ORPHA:2879
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Abdominal distention, Long penis, Hyperinsulinemia, ... OMIM:246200
Neutropenia, Severe Congenital, X-Linked
Eczema, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio, Bone marrow arrest at the promyelocy... OMIM:300299
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... OMIM:615986
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Seborrheic dermatitis, Tapered fin... OMIM:301072
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Congenital sensorineural hearing impa... OMIM:617872
X-Linked Immunoneurologic Disorder
Myopathy, Functional abnormality of the bladder, Recurrent respiratory infections, Abnormal pleur... ORPHA:2571
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Immunodeficiency 22
Pericarditis, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Capill... OMIM:615758
Propionic Acidemia
Hepatomegaly, Increased level of hippuric acid in urine, Eczema, Hypoglycemia, Poor appetite, Fee... OMIM:606054
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
Temple Syndrome
Small for gestational age, Posteriorly rotated ears, Maturity-onset diabetes of the young, Overwe... OMIM:616222
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Short attention span, Posteriorly rotated ears, S... OMIM:613563
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy... ORPHA:77297
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Nonimmune hydrops fetalis, Jaundice, Cirrhosis, Hepatic failure,... OMIM:617049
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Abnormality of the ure... ORPHA:1035
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... ORPHA:137675
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Xq28 (MECP2) duplication
Recurrent respiratory infections, Feeding difficulties in infancy, Macrotia, Functional abnormali... DECIPHER:45
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Lymphoma, Osteoporosis, Rickets, Thyroi... OMIM:212750
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Splenomegaly, Micronodular ci... OMIM:606003
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Gastroesophageal reflux, Vomiting, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec... OMIM:620233
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Acne, Increased circulat... ORPHA:189427
Dyskeratosis Congenita
Abnormality of neutrophils, Hyperhidrosis, Neoplasm, Hepatomegaly, Osteoporosis, Abnormal morphol... ORPHA:1775
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Telangiectasia, Abnormality of the clitoris, Cirrhosis, Thrombocytopenia ORPHA:101028
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Intramuscular hematoma, Menorrhagia, Myeloid leukemia, Hepatic fa... ORPHA:331
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:600376
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Insulin resistance, Obesity, Oligozoospermia, Az... OMIM:615703
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Abnormal lower-limb motor evoked potentials, Urinary incontinence, ... ORPHA:444099
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly, Hyperhidrosis, Sparse hair, Macrotia OMIM:613576
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Sensorineural hearing impairment, Leukocy... ORPHA:1451
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Osteopetrosis, Anemia OMIM:615085
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Abnormal pleura morphology, Cutaneous T-cell lymphoma, Pru... ORPHA:3162
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditi... ORPHA:39041
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Cryptorchidism, Clinodactyly, F... OMIM:615547
22Q11.2 Deletion Syndrome
Polyhydramnios, Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobation, Gastr... ORPHA:567
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Pituitary Gigantism
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... ORPHA:99725
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular dilatation, Abnormal left ventricular... ORPHA:70591
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Lympha... OMIM:611762
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Nephritis, Hepato... OMIM:617303
H Syndrome
Microcytic anemia, Micropenis, Psoriasiform dermatitis, Recurrent pharyngitis, Bronchiectasis, He... ORPHA:168569
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,... OMIM:610978
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... ORPHA:486815
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Decreased response to growth hormone stimulation test, Poor appetite, Feed... ORPHA:96182
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity OMIM:605724
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc... OMIM:240300
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Progressive... OMIM:230600
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Edema, Polyhydramnios, Short tibia, Micropenis, Patent foramen ovale, Hypos... OMIM:607143
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Hyperhidr... ORPHA:1329
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Renal cyst, Gastroesophageal reflux, Chron... ORPHA:261494
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Relapsing Polychondritis
Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Glom... ORPHA:728
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Congestive he... OMIM:617156
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Down Syndrome
Joint laxity, Aganglionic megacolon, Abnormality of the lymphatic system, Decreased fertility, Ma... ORPHA:870
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:79085
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy... OMIM:615688
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Addu... OMIM:617022
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Neoplasm of the outer e... ORPHA:79140
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Perrault Syndrome 1
Increased circulating gonadotropin level OMIM:233400
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair... ORPHA:2790
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Aganglionic megacolon, Arachnodactyly, Ch... ORPHA:261222
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... OMIM:276820
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Urinary urgency, Dementia, Memory impairment, Urinary bladder sphincter dys... OMIM:182601
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe... ORPHA:17
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Adren... OMIM:609981
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopen... ORPHA:77293
Esophageal Atresia
Respiratory distress, Polyhydramnios, Maternal diabetes, Feeding difficulties in infancy, Bronchi... ORPHA:1199
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries ORPHA:90301
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... OMIM:617780
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen... OMIM:231000
Alstrom Syndrome
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti... OMIM:203800
Silver-Russell Syndrome
Decreased muscle mass, Hyperhidrosis, Recurrent hypoglycemia, Abnormal appendicular skeleton morp... ORPHA:813
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Diarrhea, Peritonitis, Rec... ORPHA:90038
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liv... ORPHA:1304
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Skin rash, Myositis, J... ORPHA:809
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Elevate... ORPHA:2965
Galactokinase Deficiency
Psychomotor deterioration, Hepatomegaly, Premature ovarian insufficiency, Small for gestational a... ORPHA:79237
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... ORPHA:3416
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Feeding difficu... ORPHA:254516
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment... OMIM:266500
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp... OMIM:228000
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, High palate, Atrioventricular canal... ORPHA:251071
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, High, narrow palate, Obes... ORPHA:2183
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:616030
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Tapered finger, O... ORPHA:401923
Schinzel-Giedion Syndrome
Renal cyst, Hepatoblastoma, Micropenis, Myeloid leukemia, Streak ovary, Hypospadias, Ependymoma, ... ORPHA:798
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad hallux, Abnormality of the kidney, Feeding difficulties in infancy, Obesity, Hypoplastic le... OMIM:610543
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Biliary... OMIM:306955
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... ORPHA:210110
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Noonan Syndrome 7
Curly hair, Atrial septal defect, Thickened helices, Large for gestational age, Feeding difficult... OMIM:613706
19P13.12 Microdeletion Syndrome
Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger, Atrial sept... ORPHA:254346
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney d... OMIM:251000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Acroosteolysis of distal phalanges (feet), Hepatic steatosis, Muscle hypertrophy of... ORPHA:280365
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Respiratory distress, ... ORPHA:206436
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Non-Hodgkin lymphoma, Rhabdo... OMIM:276300
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Low-set ears ORPHA:436151
Muckle-Wells Syndrome
Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Nephropathy, Vasculitis, Optic at... ORPHA:575
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Abnormal autonomic nervous ... ORPHA:369873
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Abnormal ... ORPHA:2538
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Cinca Syndrome
Papilledema, Skin rash, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Arthriti... OMIM:607115
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Tall stature, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the mus... ORPHA:2463
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:187300
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, A... OMIM:268300
Galactosemia I
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... OMIM:617895
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Niemann-Pick Disease Type C
Fetal ascites, Progressive neurologic deterioration, Abnormal lung morphology, Hydrops fetalis, A... ORPHA:646
Spastic Paraplegia 84, Autosomal Recessive
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Crohn's di... OMIM:619621
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Bowing of the lon... ORPHA:2088
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Pancytopenia, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage,... ORPHA:520
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Biliary atresia, Proportionate tall stature, Aplasia/Hypopla... ORPHA:96149
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Secundum atrial septal defect, Low anterior hairline, Gastroesophageal r... OMIM:608779
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Myelodysplasia, Cryptorchidism, Anemia, Squamous cell carcinoma ... OMIM:620365
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Hepatic failu... ORPHA:186
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Sensorineural hearing impairment, Jaundice, Patent ductus ... ORPHA:290
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Sensorineural hearing im... ORPHA:3152
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, EEG with burst suppression, Sensorineural hearing imp... OMIM:617713
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Myopathy, Aminoaciduria ORPHA:33574
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the kidney, Sparse eyebrow, Small hand, Cleft palate, Mild hear... ORPHA:459061
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly,... ORPHA:158687
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Skin rash, Small for gestational age, Abdominal pain, Abnormality ... ORPHA:69665
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Acne, Biliary tract abnormality, Obesity, Membranous subvalvul... ORPHA:3191
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent respiratory infect... OMIM:615387
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T c... OMIM:618987
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Senso... OMIM:618652
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatomegaly, Increased bone mineral density, Facial palsy, Leukocy... OMIM:259720
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... ORPHA:100994
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb OMIM:179270
Immunodeficiency 19
Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis... OMIM:615617
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Confusion, Myocardial infarction, Hematuria, M... ORPHA:54057
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Absent brainstem auditory responses, Foot joint contracture, P... ORPHA:90321
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Immunodeficiency 11A
Monocytopenia, Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T c... OMIM:615206
Chops Syndrome
High, narrow palate, Synophrys, Coarse hair, Gastroesophageal reflux, Aspiration pneumonia, Thick... OMIM:616368
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:91355
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Recu... OMIM:613501
Plague
Respiratory distress, Chapped lip, Edema, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infecti... ORPHA:707
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing... ORPHA:3186
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... ORPHA:95430
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Pustular rash, Osteomalacia... OMIM:619381
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Optic atrophy, Ascit... OMIM:610965
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... OMIM:618459
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short palm, Clinodactyly of the 5th finger, Conductive hearing i... ORPHA:1001
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Obesity, Adva... OMIM:614613
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Skin rash, Abscess, Osteomyelitis, Pustule, Splenomegaly,... OMIM:612852
Alg9-Cdg
Villous atrophy, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Large fle... ORPHA:79328
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Hypospadias, Polyhydramnios, Centrally nucleated... OMIM:300219
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Delayed epiphyseal ossification, Agenesis of corpus callosum, Cerebral a... ORPHA:166024
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Renal insufficiency, Transient ischemic attack, Proteinuria, Bilateral ... OMIM:242900
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyp... OMIM:600001
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Polyhydramnios, Large for gestatio... ORPHA:169189
Tenorio Syndrome
Hypoglycemia, Apnea, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Enuresis, Keratoconju... OMIM:616260
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard... ORPHA:3452
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Small for gestational age, Dysmenorrhea, Hypospadias, Hypoglycemia, Feeding difficult... ORPHA:397590
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... OMIM:618495
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Legius Syndrome
Short attention span, Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial ... ORPHA:137605
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Lymphadenopathy, Decreased C... OMIM:607271
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Obesity, A... OMIM:300310
Bohring-Opitz Syndrome
Apnea, Cardiomegaly, Feeding difficulties in infancy, Synophrys, Congenital contracture, Vomiting... ORPHA:97297
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... ORPHA:324410
Mosaic Trisomy 9
Hypoplasia of penis, Camptodactyly of finger, Asplenia, Cryptorchidism, Patent ductus arteriosus,... ORPHA:99776
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Diabetes mellitus, Pneumonia, Confusion, Leukocytosis, Pneumothorax, Acute i... ORPHA:36238
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste... ORPHA:226313
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... OMIM:216400
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Feeding difficulties in infancy, Reduced ... OMIM:619178
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot... OMIM:105200
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Cryptorchidism, Epispadias, Capitate-hamate fusion, Abnormality of the ... ORPHA:289
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Abnormal lung morphology, Progressive psychomotor deterioration, Abnor... ORPHA:909
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Short metacarpal, Eczema, Highly arched eyebrow, Hypothyroidism, Sensori... OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Macrotia, Cardiomegaly OMIM:300886
Ck Syndrome
Irritability, Abnormal cortical bone morphology, Posteriorly rotated ears, Joint hypermobility OMIM:300831
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... OMIM:278000
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Portal hypertension, Vertigo, Bone cyst, Abnormal mesente... ORPHA:284
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pu... OMIM:230800
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Cryptorchidism, Obesity,... OMIM:615633
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:261534
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia, Dehydration OMIM:601410
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... ORPHA:45452
Acute Intermittent Porphyria
Urinary incontinence, Hyperhidrosis, Respiratory paralysis, Proximal muscle weakness in upper lim... ORPHA:79276
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Steinfeld Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypopl... OMIM:184705
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Skeletal muscle atrophy, Myositis, Skin rash, Follicular hyperp... OMIM:615934
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Adenocarcinoma of the colon, E... ORPHA:124
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem... ORPHA:904
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Congenital hip dislocation, Increased T3/T4 ratio, Increased body weig... OMIM:614450
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Abscess, Elevated circulating creatine kinase concentration, Myocarditi... ORPHA:36234
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... ORPHA:71526
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Bronchiectasis, Optic atrophy, Knee flexion contracture, Intersti... OMIM:619708
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Respiratory tract infecti... ORPHA:2686
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis... OMIM:240500
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocalcinosis, Hig... ORPHA:769
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper... ORPHA:60032
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hypertension, Hyperglycemia OMIM:608600
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Hypogonadism, Type II ... OMIM:602668
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Hypsarrhythmia OMIM:618856
Familial Afibrinogenemia
Menometrorrhagia ORPHA:98880
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Respiratory failure, Optic neuritis, Nausea, Myelitis ORPHA:71211
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short foot, Reduction of neutrophil motility, Cellulitis, Brachydactyly OMIM:266265
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Lower limb muscle weakness, Urinary incontinence, Urinary urgency, Urinary blad... OMIM:300266
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Myelodysplasia, Lymphoma, Neuroblast... OMIM:601399
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Facial palsy, Craniosy... OMIM:259700
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Low posterior hairline, High p... OMIM:617523
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Glioma, Recurr... ORPHA:647
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, He... OMIM:130650
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Elevated hepatic tra... OMIM:269700
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Spastic Paraplegia 12, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... OMIM:604805
Adrenoleukodystrophy
Alopecia, Urinary incontinence, Bowel incontinence, Primary adrenal insufficiency, Impotence, Dem... OMIM:300100
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Feeding difficulties in infancy, Precocious puberty, Acromicri... ORPHA:254525
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Gastroesophageal reflux, Overweight, Obesity, 2-3 toe syndactyly, Hyp... OMIM:619229
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios,... OMIM:614080
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Edema, Anorexia, Diarrhea, Tachypnea, Dehydration, Weight ... ORPHA:134
Prader-Willi Syndrome
Decreased muscle mass, Decreased response to growth hormone stimulation test, Polyhydramnios, Fee... OMIM:176270
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Atopic dermatit... ORPHA:217390
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence, Cognitiv... ORPHA:306511
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Feeding difficulties, Mental dete... OMIM:619051
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Cardiomegaly, Coxa valga, Splenomegal... OMIM:230000
Adrenocortical Carcinoma
Increased body weight, Hyperhidrosis, Abdominal pain, Adrenocortical carcinoma, Abnormality of re... ORPHA:1501
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia, Low-set ears, Brain atrop... OMIM:615966
Waardenburg Syndrome Type 3
Camptodactyly of finger, Tracheomalacia, Atelectasis, White hair, Abnormal finger morphology, Cut... ORPHA:896
Poikiloderma With Neutropenia
Joint laxity, Plantar hyperkeratosis, Skin rash, Joint stiffness, Splenomegaly, Recurrent broncho... OMIM:604173
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Phimos... ORPHA:2908
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Polyuria, Mesoaxial hand polydactyl... OMIM:615994
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Flexion contracture, Urinary urgency, Chronic constipation, Distal a... OMIM:275900
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Diffuse cerebral atrophy, Poster... ORPHA:263487
Reni Syndrome
Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Anemia of inadequate production, Splenomegaly, Jaundice, Cal... OMIM:612714
Spastic Paraplegia 19, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... OMIM:607152
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Short attention span, Prominent fingertip pads, Recurrent r... ORPHA:251061
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... ORPHA:79474
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c... ORPHA:66661
Adrenomyeloneuropathy
Urinary incontinence, Adrenocortical abnormality, Urinary bladder sphincter dysfunction, Urinary ... ORPHA:139399
Monosomy 13Q34
Metrorrhagia, Epistaxis, Posteriorly rotated ears, Fetal pyelectasis, Insulin resistance, Postaxi... ORPHA:96168
Gorham-Stout Disease
Osteopenia, Torticollis, Osteomyelitis, Hemangiomatosis, Osteolysis involving bones of the upper ... ORPHA:73
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Short attention span, Penile freckling, Splenomegaly, Hydrocele testi... OMIM:605309
Spastic Paraplegia 13, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... OMIM:605280
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Recurr... OMIM:214500
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Williams-Beuren Syndrome
Bicuspid aortic valve, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Pre... OMIM:194050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Megakaryocyte dysplasia, Eczema, Myelodysp... ORPHA:508542
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Large for gestational age, A... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... OMIM:612526
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... OMIM:619510
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Pate... ORPHA:1556
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... OMIM:604367
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Recurrent cutan... ORPHA:96253
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Progressive neurologic deterioration, Gastr... ORPHA:506
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... ORPHA:64
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenom... ORPHA:85212
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia ... ORPHA:3409
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... OMIM:617114
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Decre... OMIM:618944
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Flexion contracture, Cerebral atrophy, B lymphocytopen... OMIM:619851
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Hypergonadotropic hypogona... OMIM:212065
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Noonan Syndrome 12
Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia OMIM:618624
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Selective Igm Deficiency
Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transitional B cell... ORPHA:331235
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Lymphadenopathy, B lym... OMIM:618048
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Co... ORPHA:261197
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Neuromuscula... ORPHA:206443
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Posteriorly rotated ears, Bra... OMIM:618143
Alg12-Cdg
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Camptodactyly, B lym... ORPHA:79324
Hereditary Geniospasm
Abnormality of mentalis muscle, Abnormal social behavior ORPHA:53372
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pancreatoblastoma, Pituitary corticotropic cell adeno... ORPHA:99889
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Feeding difficulties in infancy, Protr... OMIM:618798
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hepatosplenomegaly,... ORPHA:167
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Optic atrophy, Cardiomyop... ORPHA:27
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Camptodactyly of finge... ORPHA:2176
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic... OMIM:619355
Bardet-Biedl Syndrome 8
Hypospadias, Postaxial polydactyly, Situs inversus totalis, Obesity, Hypogonadism, Renal dysplasia OMIM:615985
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the kidney, Uplifted earlobe, Large for gestational age, Tapered finger, Tracheoma... ORPHA:261652
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest, Rhabd... OMIM:212138
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Melas
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Hypothyroidism, Agenesis o... ORPHA:550
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Flexion contracture, Elevated circulating thyroid-stimulat... OMIM:256040
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Spastic Paraplegia 3, Autosomal Dominant
Distal lower limb amyotrophy, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dy... OMIM:182600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi... OMIM:170100
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy... OMIM:601214
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Pancytopenia, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Recur... OMIM:607426
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypoplasia of t... OMIM:609053
Slc35A2-Cdg
Osteopenia, Elevated hepatic transaminase, Cerebellar atrophy, Limb joint contracture, Camptodact... ORPHA:356961
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Edema, Renal cyst, Gastrointestinal inflammation, Dehyd... ORPHA:79404
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture... ORPHA:440713
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocarditis, Splenome... ORPHA:549
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Recurrent upper respiratory tract infections, Obesit... OMIM:614962
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Papillary cystadenoma of the ... OMIM:180849
Distal Triplication 15Q
Large for gestational age, Flexion contracture, High palate, Atrial septal defect, Arachnodactyly... ORPHA:314588
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Nasogastric tube feeding in infancy, Abnormal lung lobation, Renal cyst, Nep... ORPHA:369837
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... OMIM:615415
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemi... OMIM:608612
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Dyspnea, Emphysema, Clubbing, Bronchi... OMIM:612387
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Unilateral deafness, Patent ductus arteriosus, Hydrocele t... OMIM:620244
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Acute pancreatitis, Dia... OMIM:608594
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Blue Diaper Syndrome
Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, ... ORPHA:94086
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Cystinosis, Nephropathic
Skeletal muscle atrophy, Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndr... OMIM:219800
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Neoplasm of the breast, Patchy reduction of bone mineral density, Cortical irr... ORPHA:249
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... ORPHA:79102
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Nonimmune hydrops fetalis, Simple ear, Short toe,... OMIM:617667
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Progressive neurologic deterioration, Sensorineural hearing impairment, Optic atrop... OMIM:618329
Spastic Paraplegia 6, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... OMIM:600363
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Diarrhea, Elevated urinary dopamine... ORPHA:230
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Hypospadias, Diastasis recti, Large for gestational age, Cryptor... ORPHA:457485
Mevalonic Aciduria
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cerebellar atrop... OMIM:610377
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Flexion contracture, Dilated c... ORPHA:89842
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Eczema, Abnormality of the endocrine system, Cryptorchidism, Sensorineur... ORPHA:464288
Scorpion Envenomation
Bundle branch block, Edema, Tachypnea, Hyperhidrosis, Vomiting, Prominent U wave, Hyperglycemia, ... ORPHA:466677
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Ketonuria, Hypoglycemia, Progressive neurologic deterioration, Dehydration... OMIM:615453
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Posteriorly rotated ears, Low-set ears, Attention deficit hyperactivity dis... ORPHA:444002
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, High, narrow palate, A... ORPHA:3472
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Agenesis of corpus callosum, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid... OMIM:614866
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Stevens-Johnson Syndrome
Acute hepatic failure, Myocardial infarction, Abnormality of the urethra, Conjunctivitis, Cough, ... ORPHA:36426
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Rheumatoid arthritis, Myeloid leukemia ORPHA:48104
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Hyperhidr... ORPHA:970
Al Amyloidosis
Howell-Jolly bodies, Abnormality of the liver, Abnormal salivary gland morphology, Abnormal EKG, ... ORPHA:85443
Friedreich Ataxia
Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabetes mellitus, Optic atrophy,... ORPHA:95
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytos... ORPHA:91547
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Optic atrophy, Anemia, Renal tubular dysfunction, Neutropenia,... ORPHA:289916
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si... OMIM:619707
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Hypoplasia of the radius, Aplasia... ORPHA:245
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... OMIM:607565
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Thickened helices, Sagittal craniosyn... OMIM:609942
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Nausea and vomiting, Renal insufficiency, Hydroureter, Polyhydramnios,... ORPHA:223
Erdheim-Chester Disease
Hyperhidrosis, Cough, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Abdominal p... ORPHA:35687
Cockayne Syndrome B
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... OMIM:133540
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... OMIM:619170
Kleefstra Syndrome 1
Recurrent respiratory infections, Brachydactyly, Hypospadias, Abnormal pinna morphology, Protrudi... OMIM:610253
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Progressive distal muscular atrophy, Abnormal toe morphology, Obesity, Tela... ORPHA:459033
Dubowitz Syndrome
Short attention span, Aplastic anemia, Hypospadias, Eczema, Cryptorchidism, Lymphoma, Protruding ... OMIM:223370
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, Molar too... OMIM:619113
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal enchondral ossification, Joi... ORPHA:2635
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Asplenia, Gastr... ORPHA:2152
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Arthritis, Dementia, Urinary incontinence ORPHA:320365
Pseudo-Torch Syndrome 3
Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Respiratory insufficiency, ... OMIM:618886
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Autoimmune thrombocyt... OMIM:616100
Fanconi Anemia, Complementation Group P
Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, ... OMIM:613951
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Bundle branch block, Congenital hip dislocation, Conge... ORPHA:373
Coach Syndrome 1
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral r... OMIM:216360
Smith-Magenis Syndrome
Feeding difficulties in infancy, Synophrys, Gastroesophageal reflux, Conductive hearing impairmen... ORPHA:819
Leprechaunism
Skeletal muscle atrophy, Rectal prolapse, Protruding ear, Nephrocalcinosis, Recurrent infantile h... ORPHA:508
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Feeding difficulties in infancy, Dehydration, Oligosacchariduria, Nephrocalc... ORPHA:534
49,Xyyyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:99330
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Lower limb muscle weakness, Urinary incontinence OMIM:613096
Immunodeficiency 31C
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... OMIM:614162
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Elevated circulating aspartate aminotransferase... OMIM:280000
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, C... OMIM:615846
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Polyhydramnios, Large for gest... OMIM:619075
Atresia Of Urethra
Renal dysplasia, Pulmonary insufficiency, Renal insufficiency, Hydroureter, Recurrent urinary tra... ORPHA:105
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Absent circula... OMIM:613500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... ORPHA:33364
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Curly eyelashes, Cardio... ORPHA:1517
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:435651
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Poland Syndrome
Diabetes mellitus, Hypospadias, Congenital diaphragmatic hernia, Retinal hamartoma, Cryptorchidis... ORPHA:2911
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Polyhydramnios, Patent ductus arteriosus, Hip dislocation, Feeding difficulties, Ne... OMIM:618005
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatic steatosis, Hepatomegaly, Multiple pulmonary cysts, Joint hypermobility,... OMIM:619418
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Abnormal pinna morphology, Glutaric aciduria, J... OMIM:231680
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R... OMIM:620321
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Atria... OMIM:245600
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Atopi... ORPHA:412035
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, T lymphocytopenia, Arthritis, B lymphocytopenia, Otitis media OMIM:601457
Mend Syndrome
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Cryptorchidism, Wide anterior... ORPHA:401973
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Lower limb hypertonia, Urinary... OMIM:604187
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem... ORPHA:793
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Large for... ORPHA:137634
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Laryngeal papilloma, Splenomegaly, Hypereosinophilia, ... OMIM:617388
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections OMIM:233650
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg... OMIM:609136
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Progressive neurologic dete... ORPHA:206448
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion c... OMIM:617591
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Calf muscle pseudohypertrophy, Insuli... ORPHA:79086
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Short attention span, Optic atrophy, Frontotemporal cereb... ORPHA:391417
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney d... ORPHA:110
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... OMIM:250220
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Neonat... OMIM:223360
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Cholangitis, Feeding difficulties in infancy, Microvesicular hepatic steatosis, Rag... OMIM:124000
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility OMIM:615962
Idiopathic Bronchiectasis
Myocardial infarction, Cachexia, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubb... ORPHA:60033
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Weight loss, Failure to thrive, Diabetes in... ORPHA:178029
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasculitis, Ly... ORPHA:50918
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Supernumerary nipple, Highly arched eyebrow, Tapered finger, Cryptorchidism, Tib... OMIM:618653
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Camurati-Engelmann Disease
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Splenomegaly, Craniofacial osteosclerosis, O... ORPHA:1328
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... OMIM:265300
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness OMIM:610357
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair... OMIM:300455
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Cardiomegaly, Hear... OMIM:618838
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskines... OMIM:616726
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chro... OMIM:616622
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Stomatitis, Pulmonary embolism, Hydrops fetalis, Dehydration, Delirium, Glo... ORPHA:79282
Sim1-Related Prader-Willi-Like Syndrome
Xerostomia, Premature adrenarche, Micropenis, Hypothalamic luteinizing hormone-releasing hormone ... ORPHA:398079
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Nail dystrophy, Esophageal stenosis OMIM:615190
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of ... ORPHA:3342
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Brachydactyly, Hypospadias, Posteriorly rotated ears, Broad hallux, Cryptorchid... ORPHA:439822
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosple... ORPHA:300298
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Abnormal pinna morphology, Apnea, Secund... OMIM:609069
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Short femur, Cardiomegaly, Pneumothorax, Glandular... OMIM:620306
Citrullinemia Type Ii
Hepatomegaly, Delirium, Confusion, Pancreatitis, Diarrhea, Enuresis, Vomiting, Hepatic fibrosis, ... ORPHA:247585
Joubert Syndrome 37
Hepatomegaly, Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Obesity, Hydroneph... OMIM:619185
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoglycemic seizures, Gastroesophageal reflux, High palate, Atr... OMIM:616364
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Sensorineural hearing impairment, Optic atrophy, Urinary urgency,... OMIM:601338
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence, Cognitive impairment, Dysphagia OMIM:616795
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Abnormality of the urethra, Intestinal perforation, ... ORPHA:537
Autosomal Dominant Spastic Paraplegia Type 19
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Urinary urgency, Male se... ORPHA:100999
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Microvesicular hepatic steatosis, Tachypnea, Low anterior hairline, Aortic... OMIM:220111
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Failure to thrive, Hypoplasia of penis, Renal insufficiency, Highly arched ... ORPHA:96147
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory infections, Anisocytosis, ... OMIM:618278
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Nephrocal... ORPHA:797
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, L... OMIM:304790
Abetalipoproteinemia
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Cardiomegal... ORPHA:14
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Crypt... OMIM:615381
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Abnormal cortical bone morphology, Agenesis of corpus callosum, Unilateral... ORPHA:2512
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Protruding ear, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly OMIM:619123
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small ... ORPHA:555874
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... ORPHA:97287
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Tooth abscess ORPHA:89937
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestational age, Proxi... OMIM:229850
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, B lymphocytopenia, Recurrent otitis media, Recur... OMIM:612692
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Abnormalit... ORPHA:2162
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Oligomenorrhea, Polycystic ovaries ORPHA:435660
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Synophrys, EEG with central focal spikes, Cholecystitis, Broad metacarpals, Hepatomegaly, Tapered... OMIM:301066
Sneddon Syndrome
Atrophic scars, Lymphopenia, Bicuspid aortic valve OMIM:182410
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Vertigo, Vasculitis, Per... ORPHA:32960
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Interictal epileptiform activity, Glycosuria, Type I diabet... OMIM:618857
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Atrial septa... ORPHA:353281
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Abnormal lung morphology, Abnormal lung loba... ORPHA:141127
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... ORPHA:1572
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Rhabdomyo... OMIM:300653
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Synophrys, Sensorineural hearing impairme... OMIM:619260
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal palm... OMIM:214800
Meckel Syndrome, Type 1
Accessory spleen, Molar tooth sign on MRI, External genital hypoplasia, Malformation of the hepat... OMIM:249000
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... OMIM:154400
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Recurrent bacterial upper respiratory tract infections, Atopic dermatitis, B lymphocytopenia, Oti... ORPHA:70593
Aredyld Syndrome
Low-set, posteriorly rotated ears, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Abnorma... ORPHA:1133
1P36 Deletion Syndrome
Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno... ORPHA:1606
Short Syndrome
Enlarged epiphyses, Small for gestational age, Insulin resistance, Insulin-resistant diabetes mel... OMIM:269880
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Weight loss, Ep... ORPHA:100086
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Metaphyseal widening, High palate, Renal neopl... ORPHA:536467
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... OMIM:213980
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Impaired myocardial contractility, Respiratory paralysis, Adren... ORPHA:681
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... OMIM:620133
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Decreased nasal nitric oxide, Infe... OMIM:615872
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Malabsorption, Abdominal ... OMIM:227810
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Crackles, Atelectasis, Hypersensitivity pneumonitis, N... ORPHA:2902
Q Fever
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Hepatomegaly, Maculo... ORPHA:781
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Meier-Gorlin Syndrome 1
Respiratory distress, Feeding difficulties in infancy, Flexion contracture, Flat glenoid fossa, C... OMIM:224690
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Noonan Syndrome 4
Curly hair, Ureteral duplication, Ventricular septal defect, Thickened helices, Polyhydramnios, L... OMIM:610733
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Failure to thrive, Underdeveloped superior crus of antihelix, Ecz... ORPHA:369950
Sweeney-Cox Syndrome
Uplifted earlobe, Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Cupped ear, Micro... OMIM:617746
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Optic atrophy, Mental deterioration, Urinary incontinence OMIM:612319
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atroph... OMIM:615512
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Flexion contractur... ORPHA:500055
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidism, Obesity, Elevated circul... OMIM:103580
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad hallux, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low poster... OMIM:300860
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Congenita... OMIM:122470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre... ORPHA:935
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Sensorineural hearing impairment, Cholestasis, H... ORPHA:541423
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... ORPHA:980
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Hypertension, Aminoaciduria, Pulmonary ... OMIM:618913
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Glioma... OMIM:251260
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, B lymphocytopenia, Low-set ears, Chronic... OMIM:614069
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Confusion, Leukocytosis, Depression, Abnormal autonomic nervous system physi... ORPHA:83601
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Opt... ORPHA:3157
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... OMIM:232800
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Low-set ears OMIM:612776
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Hypoglycemia, Malabsorption, Chronic diarrhea, Herpes si... OMIM:233600
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Acute rhabdomyolysis, Cardiac arrest, Oral-pharyngeal dysphagia, Prematu... OMIM:616878
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Acromegaly
Dysmenorrhea, Synophrys, Wide penis, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell aden... ORPHA:963
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... OMIM:616084
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Impaired glucose tolerance, Down-sloping s... OMIM:248370
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Hepatomegaly, Elevated hepat... OMIM:613327
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Weight loss, Neoplasm of the lung, Neo... ORPHA:2126
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency, Attention deficit hyperactivity disorder OMIM:618878
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... OMIM:617093
Netherton Syndrome
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Eczema, Skin rash, Ectopic... ORPHA:634
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly OMIM:617767
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Apnea, Renal steatosis, Optic atrophy, EEG abnormality, In... OMIM:261680
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, In... OMIM:127550
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency, Dementia OMIM:605909
Autosomal Dominant Spastic Paraplegia Type 12
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Urinary incontinence, Bo... ORPHA:100993
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Myopathy, N... ORPHA:169090
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Cerebral atrophy, Renal tubular dysfunct... OMIM:614886
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Obesity, Decreased fert... ORPHA:2234
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency, Mental deterioration OMIM:618418
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, External ear malformation, ... ORPHA:251066
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... OMIM:612462
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduri... OMIM:619259
Adiposis Dolorosa
Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, D... ORPHA:36397
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... OMIM:620296
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding ... ORPHA:353277
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... OMIM:615873
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Nausea and vomiting, Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red mu... OMIM:615418
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Increased circulating ACTH level, Impotence, Dementia, Progressive hearing im... ORPHA:43
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... ORPHA:2969
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Bowel incontinence, Funct... ORPHA:79093
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Absence of Stensen duct, Broad hallux, Absent radius, Coronal hypospadias... OMIM:149730
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Edema, Pituitary adenoma, Obesity, Nephrolit... OMIM:219090
Autosomal Dominant Spastic Paraplegia Type 8
Abnormal lower-limb motor evoked potentials, Urinary incontinence, Peroneal muscle atrophy, Urina... ORPHA:100989
Gm1-Gangliosidosis, Type I
Hepatomegaly, Joint stiffness, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Va... OMIM:230500
Spinocerebellar Ataxia 25
Urinary urgency, Vomiting, Hearing impairment, Facial myokymia OMIM:608703
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Stiff neck, Abnormal medulla oblongata morphology, F... ORPHA:68
Glycogen Storage Disease Ia
Hepatomegaly, Decreased muscle mass, Proteinuria, Hypoglycemia, Delayed puberty, Nephrolithiasis,... OMIM:232200
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Thrombocytop... OMIM:603467
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Pseudohypoparathyroidism Type 1C
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79444
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Recurrent respiratory infections, Pro... ORPHA:77261
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Irritability, Gliosis, Retrocollis,... OMIM:601104
Somatomammotropinoma
Dysmenorrhea, Synophrys, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell adenoma, General... ORPHA:314769
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:164400
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency, Dementia, Mental deterioration OMIM:617225
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98863
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Po... OMIM:617784
D-Bifunctional Protein Deficiency
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Cerebellar atrophy, Decreased muscle mas... OMIM:261515
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:98754
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... OMIM:109120
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency, Abnormal lower-limb motor evoked potentials, Lower limb amyotrophy, Hand muscle ... ORPHA:320355
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... OMIM:620005
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Hypoalbuminemia, C... OMIM:235510
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... ORPHA:913
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... OMIM:160980
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Adrenal hyperplasia, Acne, Diabetes mellitus, Increased body weight, Hypertension, Incr... OMIM:615830
Isolated Complex I Deficiency
Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Optic neuropathy, Sensorineural... ORPHA:2609
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Conductive hearing impairment... OMIM:244400
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Optic atrophy, Congenital laryngeal stridor, Urinary urgency, Cognitiv... OMIM:312080
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Sudden episodic apnea, ... ORPHA:466722
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Sotos Syndrome
Ureteral duplication, Astrocytoma, Flexion contracture, Neoplasm, Conductive hearing impairment, ... ORPHA:821
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Chronic bronchitis, Stage 5 chronic kidney disease, Obesity, Chol... OMIM:616629
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... OMIM:301074
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:98793
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Neutrophilia, Stiff neck, Fac... ORPHA:79139
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Rickets, R... ORPHA:213
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... OMIM:277440
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:177904
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Diabetes mellitus, Portal hypertension, Sagittal craniosynostosis, Panc... OMIM:610199
Prolidase Deficiency
Hepatomegaly, Recurrent respiratory infections, Pruritus, Splenomegaly, Crusting erythematous der... ORPHA:742
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenos... OMIM:615508
Diamond-Blackfan Anemia 21
Aortic regurgitation, Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, P... OMIM:620072
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100075
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Abnormal optic disc morphology, High palate, Chronic otitis medi... ORPHA:96121
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritab... OMIM:264700
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Recurrent fractures, Splenomegaly, Osteoporosis, Intraalve... OMIM:222700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:177901
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency, Bilateral sensorineural hearing impairment ORPHA:314603
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... OMIM:617237
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Atrioventricu... ORPHA:93317
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Vertigo, Lymphadenitis, H... OMIM:260920
Autosomal Dominant Spastic Paraplegia Type 3
Distal lower limb amyotrophy, Lower limb hypertonia, Distal lower limb muscle weakness, Urinary u... ORPHA:100984
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Myocarditis, Congestive heart failure, Splenomega... ORPHA:3386
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Abnormal hair... ORPHA:85293
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Marburg Hemorrhagic Fever
Abnormal number of granulocyte precursors, Leukopenia, Abnormal lymphocyte morphology, Internal h... ORPHA:99826
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender ... OMIM:300967
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... ORPHA:177907
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Spl... ORPHA:91138
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Facial capillary hemangioma, Partial agen... OMIM:270400
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Chime Syndrome
Osteolysis, Acute leukemia, Hydronephrosis, Hyperkeratosis, Abnormality of the outer ear, Cerebra... ORPHA:3474
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Hand muscle weakness, Fatty replacement of skeletal muscle, Chro... ORPHA:98908
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy... OMIM:600955
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-p... OMIM:617099
Pseudohypoparathyroidism Type 1A
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79443
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency, Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness ORPHA:171612
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Trichohepatoenteric Syndrome 1
Small for gestational age, Ventricular septal defect, Increased mean platelet volume, Splenomegal... OMIM:222470
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Irritability, Hypogonadism, Emotional lability, Decreased serum testo... OMIM:201100
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... OMIM:236730
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, C... ORPHA:309031
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Genu varum, Type 2 muscle fiber predomin... OMIM:619743
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovaginal fistula, Oligodactyly ORPHA:3016
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Cohen Syndrome
Feeding difficulties in infancy, High, narrow palate, Low anterior hairline, Clinodactyly of the ... ORPHA:193
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus, He... OMIM:560000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprand... ORPHA:2089
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:600785
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Diffuse cerebral atrophy, Severe B lymphocytopenia, Parakeratosis, Biliary hyperplasia, Micropeni... ORPHA:83617
Gaucher Disease
Osteopenia, Osteoarthritis, Hepatomegaly, Increased bone mineral density, Hepatitis, Depression, ... ORPHA:355
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Myocardial infarction, Renal salt wasting, Decreased urinar... ORPHA:95409
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Posteriorly rotated ears,... OMIM:608233
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,... ORPHA:35858
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Osteomalacia, External genital hypoplasia, Flexion contractu... ORPHA:2671
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Abnormality of the kidney, Raynaud phenomenon, Flexion contra... ORPHA:90289
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Splenomeg... ORPHA:565612
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Conductive hearing impairment... ORPHA:2502
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Renal salt wasting, Decrea... ORPHA:85138
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Flexion contracture, Spastic/hyperactive bladder, Generalized limb muscle atrophy, Optic atrophy,... ORPHA:137898
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... ORPHA:3384
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Vulval varicose vei... ORPHA:71273
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, P... OMIM:614816
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:66628
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Spastic Paraplegia Type 2
Recurrent respiratory infections, Bowel incontinence, Pulmonary embolism, Optic atrophy, Spastic/... ORPHA:99015
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... OMIM:619752
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive... ORPHA:79396
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Septopreoptic Holoprosencephaly
Short attention span, Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, A... ORPHA:280195
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Hiatus hernia, Sensorineural hearing impairment, Urinary urgency, Vomiting,... OMIM:609727
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Pleural effusion, Juvenile ... ORPHA:85414
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:179494
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, De... OMIM:241530
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Polyhydramnios, Large... ORPHA:544488
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hypoparathyroidism, Premat... ORPHA:199299
Spastic Paraplegia 9A, Autosomal Dominant
Urinary incontinence, Hiatus hernia, Urinary urgency, Abnormal pelvic girdle bone morphology, Gas... OMIM:601162
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Porphyria, Acute Intermittent
Tachycardia, Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Paralytic ileus, Hypertensi... OMIM:176000
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Limitation of jo... ORPHA:1486
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Overweight, Patent ductus arteriosus, Recurrent pneumon... OMIM:619769
Costello Syndrome
Hyperextensibility of the finger joints, Polyhydramnios, High palate, Atrial septal defect, Spars... OMIM:218040
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated hepatic tran... OMIM:300972
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia OMIM:301081
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo... OMIM:271665
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphoma, Optic atrophy, Protruding ear, Panniculitis, Chylothorax, Leukemia, Pleural effusion, E... ORPHA:2526
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary interstitial mor... OMIM:617050
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Intermittent hyperventilation, EEG with generalized polyspikes, Precocious puberty,... ORPHA:163681
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Parakeratosis, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, ... OMIM:607626
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo... ORPHA:100991
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... OMIM:617718
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Pedal edema, Large vessel vasculitis, Retrograde ejaculation, Hashimoto thyroiditis, Ps... ORPHA:49041
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Sagittal craniosynostosis... ORPHA:221120
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Acne, Confusion, Vertigo, Vasculitis, Lympha... ORPHA:117
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone lev... OMIM:603233
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia OMIM:174900
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure ORPHA:60
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Recurrent fractures, Polyuria, Splenomegaly, Primary... OMIM:239200
Retinoblastoma
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... ORPHA:790
Familial Expansile Osteolysis
Osteolysis, Hydroxyprolinuria, Conductive hearing impairment, Pathologic fracture, Thin bony cortex OMIM:174810
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Proximal amyotrophy OMIM:604484
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Sensorineural hearing impairme... ORPHA:18
Spinocerebellar Ataxia 10
Urinary incontinence, Decreased nerve conduction velocity, Urinary urgency, Dementia, Dysphagia OMIM:603516
Lysinuric Protein Intolerance
Osteopenia, Bone marrow hypercellularity, Decreased response to growth hormone stimulation test, ... ORPHA:470
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Myocardial infarction, Splenomegaly, Vertigo, Hypovolemia, In... ORPHA:90041
9Q33.3Q34.11 Microdeletion Syndrome
Abnormal pinna morphology, Abnormality of the kidney, Highly arched eyebrow, Abnormal hair patter... ORPHA:495818
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Patent ductus arte... OMIM:277380
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Patent ductus arteriosus, Abnormal left ventricular function,... ORPHA:229
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypertension, Portal fibrosis, Hepati... OMIM:619111
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependen... ORPHA:96191
Gitelman Syndrome
Prolonged QT interval, Polyuria, Abdominal pain, Renal magnesium wasting, Rhabdomyolysis, Ventric... OMIM:263800
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Abnormal cardiac ventricular function, Congestive heart failu... ORPHA:90349
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Reduced bone mineral density, Gliosis, Hepatomegaly, Micronodul... ORPHA:404454
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexi... OMIM:619183
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Tapered finger, Cryptorchidism, Broad... ORPHA:2896
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoar... OMIM:614204
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Juvenile Polyposis Of Infancy
Refractory anemia, Subcutaneous lipoma, Cachexia, Abnormal heart morphology, Hypoalbuminemia, Atr... ORPHA:79076
Pgm3-Cdg
Gastroesophageal reflux, High palate, Conductive hearing impairment, Chronic otitis media, Membra... ORPHA:443811
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Sensorineural hearing impairment, Micronodular cirrh... ORPHA:98907
Fg Syndrome Type 1
Limited elbow extension and supination, Hypospadias, Optic nerve hypoplasia, Craniosynostosis, Pr... ORPHA:93932
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infect... OMIM:618042
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Urinary bladder sphincter dysfunction ORPHA:231445
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Synophrys, Gastroesophageal reflux, Short palm, Prominent fingertip pads, Dilatation of renal cal... ORPHA:466950
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatitis, Epididym... OMIM:307200
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Kabuki Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Protruding ear, High palate, Conductive hea... ORPHA:2322
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... ORPHA:289157
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Feeding difficulties, Vomiting, Jo... OMIM:616881
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Eczema, Abnormality of neutrophils... ORPHA:379
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Optic atrop... OMIM:612301
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac ... ORPHA:96334
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Highly arched eyebrow, Synophrys, Feeding difficulties, Urinary urgency, Long eyelashes, Frontal ... OMIM:619286
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Bowel incontinence, Urinary urgency, Distal amyotrophy, Urinary bladder sph... OMIM:270700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosi... OMIM:265380
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease... ORPHA:293978
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Recurrent respiratory infections, Ventricular septal defect, Overweight, Hi... OMIM:619575
Mucolipidosis Type Ii
Knee flexion contracture, Otitis media, Conductive hearing impairment, Telangiectases of the chee... ORPHA:576
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Osteopetrosis With Renal Tubular Acidosis
Cranial nerve compression, Leukopenia, Conductive hearing impairment, Hepatomegaly, Secondary hyp... ORPHA:2785
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... OMIM:619849
Machado-Joseph Disease
Distal amyotrophy, Dementia, Abnormal autonomic nervous system physiology, Dysphagia, Urinary bla... OMIM:109150
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydac... OMIM:619471
Wiskott-Aldrich Syndrome
Eczema, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Recurrent upper ... OMIM:301000
Degcags Syndrome
Osteopenia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Diaphragmatic eventra... OMIM:619488
Pallister-Hall Syndrome
Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Abnormal ... ORPHA:672
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Chondrodysplasia, Blomstrand Type
Fetal ascites, Polyhydramnios, Micromelia, Squared iliac bones, Flared metaphysis, Hydrops fetali... OMIM:215045
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Myhre Syndrome
Hypoplastic iliac wing, Atrial septal defect, Sparse hair, Pericardial effusion, Cryptorchidism, ... OMIM:139210
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Gastroesophageal reflux, ... ORPHA:79408
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90037
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Feeding difficulties in infancy, Synophrys, Abnormal lung ... OMIM:607872
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... ORPHA:84085
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Renal ... ORPHA:744
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Upper limb muscle weakness, Urinary urgency, Decreased serum testos... OMIM:609195
Spinocerebellar Ataxia 2
Urinary incontinence, Distal amyotrophy, Dementia, Dysphagia, Urinary bladder sphincter dysfunction OMIM:183090
Superficial Siderosis
Nausea, Subarachnoid hemorrhage, Functional abnormality of the bladder, Abnormality of the vestib... ORPHA:247245
Right Atrial Isomerism
Abdominal situs ambiguus, Asplenia, Abnormal lung lobation, Total anomalous pulmonary venous retu... OMIM:208530
Low Phospholipid-Associated Cholelithiasis
Abdominal colic, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholesta... ORPHA:69663
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Preaxial polydactyly, Coxa ... OMIM:614976
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph... ORPHA:562639
Perineural Cyst
Dyspareunia, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence, Abdomi... ORPHA:65250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture,... OMIM:300868
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Hypospadias, Facial palsy, External ge... ORPHA:2658
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leuko... ORPHA:20
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Occipital Horn Syndrome
High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Gastroesophageal reflux, Short palm, ... ORPHA:198
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Asplenia, Patent ductus arteriosus, Annular pancreas, ... ORPHA:210122
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dementia, Pulmonary ... OMIM:607625
Cockayne Syndrome
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Gliosis, Hepatomegaly, Cry... ORPHA:191
Fatal Familial Insomnia
Apnea, Weight loss, Hyperhidrosis, Dementia, Urinary retention, Constipation, Abnormal autonomic ... OMIM:600072
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Down Syndrome
Joint laxity, Aganglionic megacolon, Patent ductus arteriosus, Pulmonary artery stenosis, Partial... OMIM:190685
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... OMIM:614868
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ... OMIM:300554
Noonan Syndrome
Low-set, posteriorly rotated ears, Hepatomegaly, Hypogonadotropic hypogonadism, Aplasia of the se... ORPHA:648
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Optic nerve hypoplasia, Unilateral renal agenesis, Abnormal ... ORPHA:221139
Alexander Disease Type Ii
Limb muscle weakness, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system ph... ORPHA:363722
Visceral Myopathy 1
Gastroparesis, Aganglionic megacolon, Polyhydramnios, Intestinal pseudo-obstruction, Abdominal pa... OMIM:155310
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperinea... OMIM:613960
Fragile X-Associated Tremor/Ataxia Syndrome
Bowel incontinence, Pollakisuria, Impotence, Hypertension, Dementia, Abnormal autonomic nervous s... ORPHA:93256
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Aspartylglucosaminuria, Joint sti... ORPHA:93
Cryptogenic Organizing Pneumonia
Pneumothorax, Leukocytosis, Neutrophilia ORPHA:1302
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Confusion, Hemoly... OMIM:274150
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... OMIM:153670
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... OMIM:300009
Pneumocystosis
Multiple pulmonary cysts, Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pne... ORPHA:723
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Nephrolithiasis, A... ORPHA:93160
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, Synophrys, Protruding ear, Vomiting, High palate, Oti... OMIM:619475
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Tachypnea, Lacticaciduria, Dehydration, Vomiting, Hyperglyc... ORPHA:3008
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Cholangitis, Renal cyst, Hepatic fibrosis, Nephronophthisis, He... OMIM:266920
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Micrognathia, Cryptorchidism, Hypoplasia ... ORPHA:3412
Familial Tumoral Calcinosis
Hepatomegaly, Calcification of muscles, Skin rash, Splenomegaly, Hyperhidrosis, Nephrocalcinosis,... ORPHA:53715
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Protruding ear, Pinea... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Protruding ear, Pinea... ORPHA:363958
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Decreased circula... OMIM:619795
Meckel Syndrome
Low-set, posteriorly rotated ears, Accessory spleen, Ureteral duplication, True hermaphroditism, ... ORPHA:564
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla... OMIM:311900
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Brainstem dysplasia, Optic atrophy, Stage 5 chronic kidney d... OMIM:243910
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, P... OMIM:618213
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, Right ventricular di... OMIM:619472
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Infertility, Oligomenorrhea, Ambiguous ... ORPHA:786
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss, Chronic constipation, Dementia, Dysphagia, Mental deter... ORPHA:411602
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Hyperhidrosis, Brain stem compression, Decreased... ORPHA:666
Arachnoid Cyst
Urinary incontinence, Facial palsy, Subarachnoid hemorrhage, Poor appetite, Abdominal pain, Abnor... ORPHA:2356
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Type II diabetes mellitu... OMIM:615812
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis,... ORPHA:79277
Hellp Syndrome
Pulmonary edema, Proteinuria, Cerebral hemorrhage, Abdominal pain, Internal hemorrhage, Increased... ORPHA:244242
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bra... ORPHA:66529
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Pink u... OMIM:263700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p... ORPHA:157215
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst, Myopathy OMIM:109130
Gaucher Disease, Type Ii
Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Cerebral atrophy, Anemia, Bronc... OMIM:230900
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Swan neck-like deformities of the fingers, Peroneal mu... OMIM:270550
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia OMIM:617729
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Rhabd... ORPHA:713
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Bardet-Biedl Syndrome 6
Syndactyly, Diabetes mellitus, Hypospadias, Postaxial polydactyly, Obesity, Renal cyst OMIM:605231
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Joubert Syndrome 18
Joint laxity, Renal cyst, Horseshoe kidney, Intrahepatic biliary atresia, Camptodactyly, Molar to... OMIM:614815
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Progressive neurolo... OMIM:614947
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Vomiting, Conj... ORPHA:31204
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab... OMIM:105650
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Progressive psychomotor deteri... ORPHA:251004
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Failure to thrive, Small for gestational age, Elevated circulating creatine kina... OMIM:619055
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Abnormal hair morphology, Ate... ORPHA:2314
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Conductive hearing impairment, Papilledema, Hepatomegaly, C... ORPHA:580
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Ventricular septal defect, Diastasis recti, Large for gestational age,... ORPHA:254534
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Orotic acid crystalluria, Sp... ORPHA:30
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Muscle fiber atrophy, Decreased amplitude of sensory ac... ORPHA:2388
Cranio-Osteoarthropathy
Eczema, Joint stiffness, Osteoarthritis, Arthritis, Abnormal cortical bone morphology ORPHA:1525
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... OMIM:613388
East Syndrome
Renal salt wasting, Renal magnesium wasting, Sensorineural hearing impairment, Enuresis, Hyperald... ORPHA:199343
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Recurrent fractures, Craniosynostosis, Splenomega... ORPHA:667
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis, Low-set ears OMIM:617127
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, High palate, Atrial septal defect, Clinodactyly of the ... OMIM:619522
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Urinary incontinence, Optic atrophy, Urinary urgency, Dysphagia, ... ORPHA:98768
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hyperten... OMIM:617913
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Arachnodactyly, Congenital diaphragmatic hernia, Oligohydramnio... OMIM:219100
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Sensorineural hearing impairment, Hypohidrosis... ORPHA:163746
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Conductive hearing impairment, Metap... OMIM:250420
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Recurrent pneumonia, Cerebral atroph... ORPHA:99843
Kawasaki Disease
Pericarditis, Skin rash, Proteinuria, Myocarditis, Congestive heart failure, Vasculitis, Leukocyt... ORPHA:2331
African Trypanosomiasis
Urinary incontinence, Delirium, Papilledema, Abnormal EKG, Hepatomegaly, Abnormality of the endoc... ORPHA:3385
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Meier-Gorlin Syndrome 4
Cryptorchidism, Patellar aplasia, Feeding difficulties, Slender long bone, Microtia, Low-set ears... OMIM:613804
Dend Syndrome
Thickened ears, Dehydration, Hypsarrhythmia, Vomiting, Clinodactyly of the 4th finger, Hyperglycemia ORPHA:79134
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Orthostatic hypotension, Lymphedema, Overweight, Obesity, Generalized limb ... ORPHA:2822
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Protruding ear, Tibial bowing, Proportionate tall stature, Spina bifid... ORPHA:500095
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Sensorine... ORPHA:2072
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger OMIM:118450
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Polyhydra... OMIM:613406
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Large for gestational age, Bowing of the legs, Macr... OMIM:617107
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... OMIM:235400
Galloway-Mowat Syndrome 1
Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th... OMIM:251300
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Raynaud phe... OMIM:613471
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... ORPHA:233
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... OMIM:208000
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Facial palsy, Camptodactyly of finger, ... ORPHA:90340
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded metacarpals wit... OMIM:182250
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence, Dementia ORPHA:206583
Neonatal Marfan Syndrome
Long toe, Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Arac... ORPHA:284979
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... ORPHA:447
Melnick-Needles Syndrome
Craniofacial hyperostosis, Recurrent respiratory infections, Osteolytic defects of the phalanges ... ORPHA:2484
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypothyroidism, Tendon xant... ORPHA:412
Metachromatic Leukodystrophy, Adult Form
Short attention span, Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, P... ORPHA:309271
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Joubert Syndrome 10
Molar tooth sign on MRI, Low-set ears OMIM:300804
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diarrhea, Vestibular areflexia, Atopic dermatitis, Respirato... ORPHA:3240
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect... ORPHA:2306
Oculodentodigital Dysplasia
Neurogenic bladder, Camptodactyly of finger, External ear malformation, Cranial hyperostosis, Abn... ORPHA:2710
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Bilateral sensorineural hearing impairment, Distal ren... OMIM:602722
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... OMIM:620014
White-Kernohan Syndrome
Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Anteriorly placed anus, ... OMIM:619426
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder, Cognitive impairment, Hearing impairment OMIM:611390
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hyperhidrosis, Leukopeni... ORPHA:2330
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... ORPHA:90348
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... ORPHA:2886
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... ORPHA:90794
Wolfram Syndrome 2
Oligomenorrhea, Primary amenorrhea OMIM:604928
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hypermobility ... OMIM:130050
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Sensorineural hearing impairment, Urinary urgency, Pollakisuria, Lower limb... ORPHA:447753
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... OMIM:300106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Multiple Myeloma
Osteopenia, Splenomegaly, Nephropathy, Lymphadenopathy, Nephrotic syndrome, Pathologic fracture, ... ORPHA:29073
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycem... OMIM:229600
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Posteriorly rotated ears, Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous ... OMIM:619657
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short attention span, Recurrent urinary tract infections, Short metacarpal, Brachydactyly, Eczema... OMIM:617157
Feingold Syndrome 1
Accessory spleen, Posteriorly rotated ears, Tricuspid stenosis, Asplenia, Patent ductus arteriosu... OMIM:164280
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Retinoblastoma
Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Abdominal pain, Intraventricular hemorrhage, ... ORPHA:420741
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Renal phosphate wasting, Renal tubular dysfunction, Elevat... OMIM:307800
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Small for gestational age, Decreased response to growth hormone... OMIM:616835
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Synophrys, Low anterior hairline, Flared metaphysis, Flat acetabular roof, Low posterior hairline... OMIM:610442
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam... ORPHA:2363
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Meckel Syndrome, Type 10
Hypospadias, Abnormal pinna morphology, Malformation of the hepatic ductal plate, Renal cyst, Cam... OMIM:614175
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Urinary incontinence, Subarachnoid hemorrhage, Paralytic ... ORPHA:139417
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Diastasis recti, Polyhydramnios, Large for ge... ORPHA:254519
Craniopharyngioma
Nausea and vomiting, Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neopla... ORPHA:54595
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Renal hypoplasia, Hypop... OMIM:619321
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Acne, Vacuo... OMIM:208400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Sensorineural hearing impairment, Short toe, Asthma, Obesity, Cone-shaped epi... OMIM:619269
Dent Disease
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... ORPHA:1652
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Femoral bowing, Anteriorly placed anus, Conductive hearing ... OMIM:201750
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Toe syndactyly, Hypoplasia of the radius, Bicornuate uterus, Labial hypoplasia, Clinodactyly of t... ORPHA:140952
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis, Urinary incontinence, Urinary urgency, Impotence, Dysphagia ORPHA:458803
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Leuko... ORPHA:764
Icf Syndrome
Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Renal phosphate wasting, Rickets, Osteomalacia OMIM:193100
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Sensorineural hearing impairment, Absent circulating B cells, Eczematoid d... OMIM:619693
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abdominal pain, Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insuffic... OMIM:609812
Hypercholanemia, Familial 1
Pruritus, Rickets OMIM:607748
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Anhidrosis, Urinary incontinence, Hypohidrosis,... OMIM:146500
Parkinson Disease, Late-Onset
Urinary urgency, Dementia, Constipation, Abnormal autonomic nervous system physiology, Dysphagia OMIM:168600
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ... ORPHA:56305
Fusariosis
Brain abscess, Fasciitis, Osteomyelitis, Lung abscess, Abnormality of the spleen, Neutropenia, Ar... ORPHA:228119
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Feeding difficulties, EEG abnormality, Hip dysplasia, Limb-girdle muscular dystroph... OMIM:615356
Radio-Renal Syndrome
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... ORPHA:3015
Joubert Syndrome 15
Ambiguous genitalia, Micropenis, Molar tooth sign on MRI, Nephronophthisis OMIM:614464
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Elevated hepatic transaminase, Recurrent respiratory infection... ORPHA:397715
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransfera... ORPHA:99829
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Protrudi... ORPHA:500150
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... ORPHA:363618
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Abnormal pinna morphology, Recurr... OMIM:309583
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Palpebral edema, Feeding difficulties, Gastroesophageal reflux, Esophagitis ORPHA:79350
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Hypoplasia of the brainstem, Low-set ears, Molar tooth sig... OMIM:619306
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum, Brain atrophy, Low-set ears OMIM:607131
Joubert Syndrome 3
Stage 5 chronic kidney disease, Lateral ventricle dilatation, Low-set ears, Nephronophthisis, Mol... OMIM:608629
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hyp... ORPHA:444072
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Calcium nephrolithiasis, Bronchitis, Right ventricular failure, Increased pulmonary... ORPHA:60025
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Urinary bladder sphincter dysfunction, Abnormality of the kidney ORPHA:53721
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... ORPHA:289176
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhyd... OMIM:601803
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Recurrent respiratory infections, Diabetes mellitus, Cryptorchidism, Jaundice, EEG with burst sup... OMIM:614231
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Pruritus, Splenomegaly, Osteop... ORPHA:95159
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Cerebellar atrophy, Bilateral trilobed lung, Ureteral duplication, Ur... OMIM:270100
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Hepatoblastoma, Posterior he... OMIM:312870
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Vesicourete... ORPHA:261537
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Keutel Syndrome
Sinusitis, Pulmonary artery hypoplasia, Emphysema, Short hallux, Premature fusion of phalangeal e... OMIM:245150
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Unilateral renal agenesis, Recurrent pneumonia, Cavernous hemangioma... ORPHA:99646
Joubert Syndrome 14
Posteriorly rotated ears, Optic atrophy, Renal cyst, Intracranial hemorrhage, Hypertension, Hypop... OMIM:614424
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Monosomy 22Q13.3
Renal dysplasia, Nausea and vomiting, Recurrent skin infections, Palpebral edema, Lymphedema, Obe... ORPHA:48652
Spinocerebellar Ataxia, Autosomal Recessive 7
Urinary urgency, Dysphagia OMIM:609270
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Postaxial hand polydactyly, Obesity, Cystic renal dysplasia, Postaxi... OMIM:615989
Renal Tubular Acidosis Iii
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis OMIM:267200
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis... ORPHA:79351
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Nephrolithiasis, Nep... OMIM:179800
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Optic atrophy, Rickets,... OMIM:268315
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Vesicourete... ORPHA:261552
Joubert Syndrome 9
Molar tooth sign on MRI, Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Ascites, Chylous
Chylous ascites OMIM:208300
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Flexion contracture, High palate... OMIM:154700
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis, Achalasia, Abnormality of the adrenal glands, Dysphagia ORPHA:289483
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Agenesis of corpus callosum, Abdominal situs inversus, Polysplenia OMIM:605376
Leptospirosis
Papilledema, Pericarditis, Hepatomegaly, Skin rash, First degree atrioventricular block, Cellular... ORPHA:509
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, Hypertension, Hyperaldo... OMIM:612780
Mosaic Trisomy 16
Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Short femoral neck, Clinod... ORPHA:1708
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria OMIM:615605
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Parkinson Disease 1, Autosomal Dominant
Urinary urgency, Dementia, Mental deterioration, Dysphagia OMIM:168601
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno... ORPHA:100079
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Joubert Syndrome 7
Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the brainstem, Nep... OMIM:611560
Meckel Syndrome 13
Molar tooth sign on MRI, Flexion contracture, Polycystic kidney dysplasia OMIM:617562
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Arachnoiditis
Anhidrosis, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impairment ORPHA:137817
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal ... OMIM:601495
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Bowel incontinence, Detrusor sphincter dys... ORPHA:573278
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... ORPHA:95455
Joubert Syndrome 32
Molar tooth sign on MRI, Hypertrophic cardiomyopathy OMIM:617757
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Low-set ears, Molar tooth sign on MRI, Elongated su... OMIM:618161
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Pulm... OMIM:616300
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, Limitation of joi... ORPHA:89936
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Abnormal social behavior, Optic atrophy ORPHA:530983
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Posteriorly rotated ears, Osteomalacia, C... ORPHA:2636
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Joubert Syndrome 28
Joint laxity, Optic disc pallor, Molar tooth sign on MRI OMIM:617121
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Renal phosphate wasting, Elevated circulat... OMIM:612089
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia, Abnormal granulocytopoietic cell morphology OMIM:612376
Joubert Syndrome 22
Molar tooth sign on MRI, Temporal cortical atrophy, Renal hypoplasia OMIM:615665
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Joubert Syndrome 39
Postaxial polydactyly, Overweight, Hypopnea, Hypoplastic left heart, Joint contracture of the 5th... OMIM:619562
Joubert Syndrome 6
Stage 5 chronic kidney disease, Hypoplasia of the brainstem, Bile duct proliferation, Hepatic fib... OMIM:610688
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Gastroesophageal reflux, Vomiting, High palate, Vesicoureteral reflux, Micropenis, Hypospadias, T... OMIM:309580
Faundes-Banka Syndrome
Sparse scalp hair, Fetal ascites, Premature thelarche, Feeding difficulties in infancy, Cryptorch... OMIM:619376
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, P... ORPHA:309263
Spinocerebellar Ataxia Type 10
Urinary urgency, EEG with generalized epileptiform discharges ORPHA:98761
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Abnormal earlobe morphology, Increased susceptibility to fractures, Large ea... ORPHA:2769
Duplication Of The Pituitary Gland
Abnormality of joint mobility, Abnormal midbrain morphology, Abnormal pituitary gland morphology,... ORPHA:314621
Joubert Syndrome 2
Renal insufficiency, Brainstem dysplasia, Optic disc coloboma, Renal cyst, Hypoplastic male exter... OMIM:608091
Joubert Syndrome 16
Molar tooth sign on MRI, Renal cyst, Nephronophthisis OMIM:614465
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI OMIM:617622
Joubert Syndrome 20
Molar tooth sign on MRI, Renal cyst OMIM:614970
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior, Cerebral cor... ORPHA:1020
Vater/Vacterl Association
Syndactyly, Hypospadias, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydacty... OMIM:192350
Cole Disease
Hyperglycemia OMIM:615522
Chand Syndrome
Curly hair, Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Hypohidrosis, Bifid t... ORPHA:1401
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Generalized joint laxity, Recurrent pneumonia, Nephrolithiasis, Decreas... OMIM:613848
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Joubert Syndrome 1
Optic disc pallor, Brainstem dysplasia, Optic disc coloboma, Renal cyst, Macroglossia, Hypoplasia... OMIM:213300
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Weill-Marchesani Syndrome 2
Joint stiffness, Congestive heart failure, Patent ductus arteriosus, Elbow flexion contracture, M... OMIM:608328
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Camptodactyly of finger, Cryptorchidism, Ri... OMIM:309000
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Spondyloocular Syndrome
Osteopenia, Posteriorly rotated ears, Unilateral cryptorchidism, Sensorineural hearing impairment... OMIM:605822
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Molar tooth sign o... ORPHA:220497
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Increased body weight ORPHA:64745
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Lipodystrophy, Pericardial e... ORPHA:79318
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Renal tubular dysfunction, Glycosu... ORPHA:411629
Weill-Marchesani Syndrome 1
Joint stiffness, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aortic valve ... OMIM:277600
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural... ORPHA:309256
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Hamartoma of tongue, Bilateral cryptorchidism, Hypothalamic ha... ORPHA:2754
Frank-Ter Haar Syndrome
Osteopenia, Acne, Osteoporosis, Protruding ear, Low-set ears, Camptodactyly, Cortical irregularit... OMIM:249420
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Aganglionic megacolon, Molar tooth sign on MRI, Abnormality of... ORPHA:220493
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Bile duct proliferation, Renal cyst OMIM:611134
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... OMIM:204690
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Posteriorly rotated ears, Flexion contracture, Lateral ventricle dilatation, Small p... OMIM:619479
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Molar tooth sign o... ORPHA:2318
Joubert Syndrome 8
Molar tooth sign on MRI, Optic disc pallor, Prolonged neonatal jaundice, Hepatomegaly OMIM:612291
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Congenital diaphragmatic hernia, Hypoplasia of the brainstem, Pulmonary hypo... OMIM:616546
Childhood Absence Epilepsy
Abnormal social behavior, Urinary incontinence, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Frontotemporal dementia, Nocturia, Hypomimic face OMIM:612953
Orofaciodigital Syndrome Vi
Posteriorly rotated ears, Hamartoma of tongue, Low-set ears, Hypothalamic hamartoma, Conductive h... OMIM:277170
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Dyspnea, Tendon x... ORPHA:391665
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Large earlobe, Uraciluria, Irritability, Abnormal social behavior, Abnormal agg... ORPHA:1675
Enamel-Renal Syndrome
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... ORPHA:1031
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Hamartoma of tongue, Low-set ears OMIM:617563
Joubert Syndrome 38
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Posteriorly rotated ea... OMIM:619476
Orofaciodigital Syndrome Xiv
Posteriorly rotated ears, Hamartoma of tongue, Epispadias, Partial agenesis of the corpus callosu... OMIM:615948
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Par... ORPHA:434179
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Optic atrophy, Sclerosis of skull base, Optic nerve compression, Thin bony cort... OMIM:619727
Isolated Posterior Meningocele
Enuresis, Hydromyelia, Bowel incontinence ORPHA:268810
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Cystic Fibrosis
Male infertility OMIM:219700
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Memory impairment, Abnormal social behavior, Cerebral cortical atrophy ORPHA:314647
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Esr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Esr2.

No publications found that use IMPC mice or data for Esr2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Esr2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Esr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Esr2tm40116(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Esr2em1(IMPC)Marc Deletion Mice
Esr2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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