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Gene: Inha MGI:96569

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
inhibin alpha
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Inha 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma, Melan... ORPHA:145
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Metrorrh... ORPHA:370348
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider... ORPHA:75564
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Polyembryoma
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Neoplasm of head... ORPHA:180229
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Decreased circulating luteinizing hor... OMIM:614897
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Neoplasm of th... ORPHA:440437
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Mccune-Albright Syndrome
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... ORPHA:562
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormon... OMIM:229070
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:617872
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Intestina... ORPHA:1333
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Neoplasm, Eleva... OMIM:300068
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Kyphoscoliosis, Cardiomegaly OMIM:300886
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Cowden Syndrome 1
Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,... OMIM:158350
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the re... ORPHA:2221
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Megalencephaly
Macroorchidism, Truncal obesity, Long penis, Short neck ORPHA:2477
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Primary Myelofibrosis
Bone marrow hypercellularity, Extramedullary hematopoiesis, Ecchymosis, Abnormal bleeding, Hepato... ORPHA:824
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Werner Syndrome
Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neopl... ORPHA:902
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Fanconi Anemia, Complementation Group S
Breast carcinoma, Ovarian neoplasm, Narrow palate, Ovarian carcinoma, Failure to thrive, Anemia OMIM:617883
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Obesity, Scoliosis, Macroorchidism OMIM:300602
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Xp22.13P22.2 Duplication Syndrome
Short neck, Polycystic ovaries, Truncal obesity, High palate, Scoliosis, Macroorchidism ORPHA:284180
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure, Obesity, Kyphoscoliosis ORPHA:3077
Diencephalic Syndrome
Cachexia, Long penis, Neoplasm of the nervous system, Decreased body weight, Abnormality of the h... ORPHA:1672
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Facial telangiectasia, Squamous cell carcinoma ORPHA:50944
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat... ORPHA:453533
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Myelodysplasia, Cryptorchidism,... OMIM:606593
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo... ORPHA:98850
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Mcdonough Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Cachexia ORPHA:2471
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar ... OMIM:612847
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Splenomegaly, Patent ductus ar... OMIM:606003
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gl... ORPHA:2298
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Hypergonadotropic hypog... ORPHA:298
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
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Immunodeficiency 16
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Cryptorchid... OMIM:305400
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Short neck, Obesity, High palate, Scoliosis, Macroorchidism, Male hypogonadism OMIM:300055
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm... OMIM:613987
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Abnormality of the... ORPHA:905
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Malabsorption, Crypt... ORPHA:99812
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 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... ORPHA:90790
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... OMIM:618963
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... ORPHA:314478
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Premature Ovarian Failure 14
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:618014
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Scoliosis OMIM:300624
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 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
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocyt... OMIM:614172
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm of the breast, Hamart... ORPHA:137608
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Fragile X Syndrome
Sinusitis, Gastroesophageal reflux, Otitis media, Macroorchidism, Chronic otitis media ORPHA:908
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... OMIM:619858
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia w... ORPHA:318
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, B-cell lymphoma, Splenomegaly, Weight loss, Abnormal b... ORPHA:52416
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
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
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Pancytopenia, Hypospadias, Eczema, Petechiae, Cryptorchidism, Hemivertebrae, Atopic d... OMIM:620331
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... ORPHA:2930
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
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
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Weight loss, Adrenocorticotropic hormone excess, Increased serum serotoni... ORPHA:100083
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis OMIM:618484
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ... OMIM:619041
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... ORPHA:398124
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Abnormal bleeding, Pancytopenia, Metrorrhagia, Petechiae, Epistaxis... ORPHA:520
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... OMIM:619542
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Pancytopenia, Skin rash, Villous atrophy, Diffuse alveolar hemorrhage, Splenom... OMIM:616050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Gastroesophageal reflux, Bone marrow hypocellulari... OMIM:614742
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Tricuspid stenosi... ORPHA:100079
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Vasculi... OMIM:308240
Lujan-Fryns Syndrome
Macroorchidism, High palate, Scoliosis ORPHA:776
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Scholte Syndrome
Micropenis, Decreased testicular size, Kyphoscoliosis OMIM:300977
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Helicobacter pylori infection, Small fo... ORPHA:275555
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Decreased propor... OMIM:619824
Warburg Micro Syndrome 1
Cryptorchidism, Failure to thrive, External genital hypoplasia, Kyphoscoliosis OMIM:600118
Carpenter Syndrome
External genital hypoplasia, Kyphoscoliosis, Abnormal reproductive system morphology, Cryptorchid... ORPHA:65759
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia OMIM:614743
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Estrogen Resistance Syndrome
Acne, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Increased c... ORPHA:785
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Kyphoscoliosis, Elev... OMIM:614727
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Eczema, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Schimke Immunoosseous Dysplasia
Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Transient ... OMIM:242900
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Transient neutropenia, Decreased response to growth hormone stimula... ORPHA:811
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal v... ORPHA:75233
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Neoplasm of head and neck, Pure red cell aplasia, ... ORPHA:99867
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Myocardial necrosis, Elevated hepatic transaminase, Small f... OMIM:260400
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... ORPHA:3085
Ataxia-Pancytopenia Syndrome
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... OMIM:159550
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Protruding tongue, Congest... ORPHA:324410
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Diastrophic Dysplasia
Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Cleft palate,... OMIM:222600
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph... OMIM:619924
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Renpenning Syndrome
Diabetes mellitus, Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular... ORPHA:3242
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Allan-Herndon-Dudley Syndrome
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Kypho... ORPHA:59
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Gastroesophageal reflux, Type I diabetes mellitus, Failure to thrive ORPHA:251009
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis, High palate, Sc... OMIM:233400
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto... OMIM:227650
Spermatogenic Failure 15
Non-obstructive azoospermia, Abnormal circulating testosterone concentration, Spermatogenesis mat... OMIM:616950
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Lymphoma... OMIM:615122
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body... OMIM:231000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Hepatosplenomegaly, Sterile arthritis, Art... OMIM:604416
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... ORPHA:231632
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, External genital hypoplasia, Thoracolumbar scoliosis, Kyphoscoliosis, Trunc... ORPHA:3041
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Riboflavin Transporter Deficiency
Cachexia, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Spermatogenic Failure 17
Male infertility OMIM:617214
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi... OMIM:617052
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Hepatic necros... ORPHA:100093
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sinusitis, Absent circula... OMIM:620282
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormone level, Pylo... OMIM:618419
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal bleeding, Splenomegaly, Paten... OMIM:614576
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Bangstad Syndrome
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins... OMIM:210740
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Primary amenorrhea... OMIM:604168
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Hyperhidrosis, Weight lo... ORPHA:86893
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Neutropenia, Hypoplastic anemia, Hepato... OMIM:557000
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Congenital hypothyroidism, Failure to thrive, Abnormal vertebral morp... ORPHA:96183
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio... OMIM:230800
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... OMIM:617341
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Small for gestational age, Kyphoscoliosis OMIM:300844
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc... OMIM:600901
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 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Failure to thrive, Diabetes mellitus, Telangiectasia ... ORPHA:100
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Propionic Acidemia
Hepatomegaly, Pancytopenia, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neut... OMIM:606054
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral hei... OMIM:616817
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone concentration, Az... OMIM:108420
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc... OMIM:227645
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocardial infarctio... ORPHA:3452
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilit... ORPHA:35858
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pne... OMIM:127550
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... ORPHA:79124
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Multiple lipomas, Lipoma, Hemangioma OMIM:176920
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Tracheoes... ORPHA:2745
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Hypertension, Abnormality of the live... ORPHA:2169
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... OMIM:613662
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Vipoma
Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Intermittent ja... ORPHA:97282
Hemochromatosis, Neonatal
Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n... OMIM:231100
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myelodysplasia OMIM:614675
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... ORPHA:47
Myotonic Dystrophy 2
Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Hypog... OMIM:602668
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Thoracic kyphosco... OMIM:613385
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev... ORPHA:67044
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Increased circulating lactate dehydrogenase concentration, Thrombocytosis, Ecz... OMIM:617780
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidism, Failure to thrive, Anky... OMIM:618874
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hamartomatous polyposis, Intracranial hemorrhage, Neoplasm, Thyro... ORPHA:109
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Congestive heart failure, Arrhythmia ORPHA:157973
Basal Cell Nevus Syndrome 1
Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Kyphoscoliosi... OMIM:109400
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Obesity, Primary amenorrhea, Hypogonadism, Micropeni... OMIM:614962
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Cryptorchidism, Atopic dermatitis, Obesity, Chronic otitis media, Failure to thrive ORPHA:412035
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Patent d... OMIM:227646
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Short neck, Kyphosis, Obesity, Hyperhidrosis, Hypogonadism, High p... ORPHA:85293
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the pancreas, Weight l... ORPHA:54251
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth h... ORPHA:1855
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Kyphoscoliosis, Central adrenal insufficiency, Small pituitary gla... OMIM:612079
Juvenile Polyposis Of Infancy
Refractory anemia, Abnormal bleeding, Gastrointestinal hemorrhage, Cachexia, High, narrow palate,... ORPHA:79076
Rahman Syndrome
Cryptorchidism, Kyphoscoliosis OMIM:617537
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Soft tissue neoplasm, Vaginal neoplasm, Genital ne... ORPHA:2126
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroid... ORPHA:37042
Alexander Disease Type I
Cachexia, Abnormal thalamic MRI signal intensity, Scoliosis, Dysphagia, Failure to thrive ORPHA:363717
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Kyphoscoliosis, Supraventricular tachycardia with an accessory connectio... ORPHA:404443
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Hyp... ORPHA:85321
Congenital Fibrinogen Deficiency
Decreased testicular size, Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupt... ORPHA:335
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gla... ORPHA:2234
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma OMIM:613951
Central Precocious Puberty In Male
Astrocytoma, Acne, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Hyp... ORPHA:649929
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Kyphos... ORPHA:77259
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabete... ORPHA:1133
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian in... ORPHA:199299
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Dysphagia, Hypertrophic cardiomyopathy, Hepatic fai... OMIM:607426
Grfoma
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... ORPHA:97261
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... ORPHA:97280
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Decreased methionine synthase activity, Pancytopenia, Small for gestational age, Sk... OMIM:277380
Apert Syndrome
Esophageal atresia, Cervical C5/C6 vertebrae fusion, Narrow palate, Ovarian neoplasm, Cleft palat... ORPHA:87
Atypical Werner Syndrome
Fasting hyperinsulinemia, Neoplasm of the breast, Hepatic steatosis, Renal neoplasm, Premature ov... ORPHA:79474
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... OMIM:613839
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Non-obstructive azoospermia, ... ORPHA:2232
Hemochromatosis, Type 3
Elevated hepatic transaminase, Purpura, Hypogonadotropic hypogonadism, Arthritis, Impotence, Card... OMIM:604250
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Recurrent pneumonia, Failure to thrive OMIM:214150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly... ORPHA:2072
Ppoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97278
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Seckel Syndrome 1
Pancytopenia, Hypospadias, Cryptorchidism, Cleft palate, High palate, Scoliosis, Clitoral hypertr... OMIM:210600
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypergonadotropic hypogonadism, Short neck, Esophageal atresia, Patent ductus ar... OMIM:300514
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... ORPHA:137605
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Sandwich appearance of vertebral bodies, Splenomegaly,... OMIM:259700
Dysspondyloenchondromatosis
Kyphoscoliosis, Osteoarthritis, Multiple enchondromatosis, Vertebral segmentation defect, Platysp... ORPHA:85198
Emanuel Syndrome
Sacral dimple, Kyphoscoliosis, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Dysphagia,... ORPHA:96170
Trisomy 20P
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Vertebr... ORPHA:261318
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Fanconi-Like Syndrome
Pancytopenia, Osteomyelitis, Multiple cutaneous malignancies OMIM:227850
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension, Hepatic stea... ORPHA:79084
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy... OMIM:615688
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Submuc... OMIM:114300
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchym... ORPHA:1332
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentrat... OMIM:617253
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Leukopenia, Conjun... OMIM:305000
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Conjunctiviti... ORPHA:99827
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
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Ab... ORPHA:93941
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Leukopenia, Hepatic ... OMIM:613989
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, D... ORPHA:79239
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Hepatitis, Bronchi... ORPHA:33110
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Neurofibroma
Facial neoplasm, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar neurofibroma,... ORPHA:252183
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, C... ORPHA:465508
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Oral leuk... OMIM:613990
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocy... ORPHA:3261
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice... ORPHA:779
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Aplastic anemia, Eo... ORPHA:486
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Hypospadias, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Crypto... OMIM:611209
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Increased body weight, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Cardiomyo... ORPHA:264580
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Weight loss, Neoplasm of the central nervous system, Neoplasm o... ORPHA:69077
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Hig... ORPHA:85212
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Petechia... ORPHA:85450
Alstrom Syndrome
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti... OMIM:203800
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Weight loss, Aspiration pneumonia, Microglossia, Hamartoma ORPHA:141152
Steinert Myotonic Dystrophy
Brain neoplasm, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Int... ORPHA:273
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, High palate, Kyphoscoliosis ORPHA:1145
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Goiter, Kyphosis, Fibroadenoma of the breast, Thyroiditis, ... OMIM:615109
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... ORPHA:79303
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive ORPHA:217346
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss ORPHA:2023
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Acute leukemia, Hypogonadism, Testicul... ORPHA:281090
Transcobalamin Deficiency
Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Crouzon Syndrome
Keratitis, High palate, Conjunctivitis, Abnormality of the cervical spine, Dysgerminoma OMIM:123500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Neoplasm of th... ORPHA:744
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Breast carcinoma, Furrowed t... OMIM:615108
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Abnormal lactate dehydrogena... ORPHA:42
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Small for gestational age, Slender bu... OMIM:613658
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Ck Syndrome
High palate, Lumbar hyperlordosis, Slender build, Kyphoscoliosis ORPHA:251383
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Ichthyosis--Cheek--Eyebrow Syndrome
High palate, Kyphoscoliosis OMIM:146720
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia, Petechiae ORPHA:79477
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Thr... OMIM:603553
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Chr... OMIM:240300
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Müllerian Aplasia And Hyperandrogenism
Acne, Short neck, Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased ... ORPHA:247768
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Mirage Syndrome
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, A... OMIM:617053
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Cryptorchidism, Pulmonic stenosis, Testicular torsion, Aortic valve stenosis ORPHA:75496
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains... OMIM:615846
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Flynn-Aird Syndrome
Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Type II diab... ORPHA:2047
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megalobla... OMIM:275350
Erythrokeratodermia Variabilis
Diabetes mellitus, Skin rash, Weight loss, Neoplasm of the skin, Abnormal testis morphology ORPHA:317
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla... OMIM:255800
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis OMIM:616583
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis, Gastroesophageal reflux OMIM:612913
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Cholestasis... OMIM:608104
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Prune Belly Syndrome
Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Decreased fertility, Vertebral ... ORPHA:2970
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Small for gestational age, Aplastic anemia, Myelodysplasia, Cryp... ORPHA:221008
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Cleft palate, Gastroesophageal ref... ORPHA:447980
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... OMIM:618394
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Foxg1 Syndrome
Kyphoscoliosis, Gastroesophageal reflux, Scoliosis, Decreased body weight ORPHA:561854
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Hypertrophic cardiomyopathy... OMIM:620135
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Small for gestational age, Kyphoscoliosis OMIM:610756
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis, Membranoproliferative glomerulonephritis, Polycystic ovaries OMIM:608709
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Neoplasm, Menorrhagia ORPHA:168816
Nk-Cell Enteropathy
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abnormal gastric mucosa morpho... ORPHA:263665
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Hepatocellular necro... OMIM:201475
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Kyphoscoliosis, Dysphagia OMIM:618230
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Scoliosis, Spinal rigidity OMIM:620386
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Cryptorchidism, Telangiectasia, Chordee, Hypoplastic nipples, Microp... OMIM:300519
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Fasting hyperinsulin... ORPHA:71212
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... OMIM:618398
Nemaline Myopathy 7
Lumbar hyperlordosis, High palate, Kyphoscoliosis OMIM:610687
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Distal Deletion 10P
Hypoplasia of penis, Short neck, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, ... ORPHA:1580
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Tuberculosis
Weight loss ORPHA:3389
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Obesity, Cleft palate, Truncal obesity, Coronal cleft vertebrae, I... OMIM:618363
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, High, narrow palate, Kyphoscoliosis ORPHA:3433
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Kyphoscoliosis, Dysphagia ORPHA:496689
Aspartylglucosaminuria
Hepatomegaly, Acne, Kyphosis, Vacuolated lymphocytes, Macroglossia, Platyspondyly, Mitral regurgi... OMIM:208400
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Myelodysplasia, Thrombocytopenia, Hypoplasia of the u... OMIM:619151
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Thrombocytopenia, Neutropenia, Decreased methylmalonyl-CoA mutase act... OMIM:251110
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Ciliary Dyskinesia, Primary, 37
Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Leigh Syndrome
Failure to thrive, Hepatocellular necrosis OMIM:256000
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Small for gestational age, Ky... OMIM:613330
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... OMIM:300280
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr... OMIM:618986
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... OMIM:278000
Warburg Micro Syndrome 3
Small scrotum, Kyphoscoliosis, Hypoplastic labia minora, Narrow palate, Micropenis, Decreased tes... OMIM:614222
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Gastroesophageal reflux, Failure to ... ORPHA:90045
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy, Scoliosis, Failur... OMIM:619518
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the ver... ORPHA:1328
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... OMIM:259710
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... OMIM:611182
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Pulmonary arterial hypertension, Failure to ... OMIM:613845
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Scoliosis, Failure to thrive in infancy, Cachexia, Short neck OMIM:616801
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, High palate OMIM:309520
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Monosomy 18Q
Astrocytoma, Slender build, Left-to-right shunt, Kyphoscoliosis, Bilateral cryptorchidism, Conges... ORPHA:1600
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive in infancy, Skin ... OMIM:610377
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochr... ORPHA:653
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Protruding tongue, Cryptorchidism, Kyphosis, Reduced alpha/beta synt... OMIM:301040
Melioidosis
Shock, Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, H... ORPHA:31202
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... ORPHA:88
Arthrogryposis, Distal, Type 2A
Failure to thrive, Small for gestational age, Kyphoscoliosis, Short neck, Cryptorchidism, High pa... OMIM:193700
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Arterial rupture, Kyphoscoliosis ORPHA:300179
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Weight loss ORPHA:411593
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Kyphoscoliosis, Premature ovarian insufficiency, Scoliosis ORPHA:391307
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Congenital Myopathy 23
High palate, Kyphoscoliosis OMIM:609285
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Tetrasomy 12P
Cachexia, Short neck, Abnormal soft palate morphology, Hypohidrosis, Anal atresia ORPHA:884
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, Thrombocytopenia,... ORPHA:2123
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Recurrent skin infections, Cervical kyphosis, Kyphoscoliosis, Cryptorchidism, ... ORPHA:2953
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Macroglossia, High palate, Scoliosis OMIM:616354
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Wei... ORPHA:3226
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hyperlordosis, Congestive heart ... ORPHA:26791
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... ORPHA:79083
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Abnormal bone marrow cell morphol... ORPHA:100024
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... OMIM:231530
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe failure to thrive, Coronal cleft vertebrae, Cleft palate, Kyphoscoliosis OMIM:215100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Whistling Face Syndrome, Recessive Form
Microglossia, High palate, Kyphoscoliosis, Short neck OMIM:277720
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Hepa... ORPHA:98849
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Osteoarthritis, Cardiomyopathy, Impotence, Cirrhosis, Arrhythmia... OMIM:606069
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Idiopathic Achalasia
Gastroesophageal reflux, Recurrent aspiration pneumonia, Dysphagia, Weight loss ORPHA:930
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Weight loss, Leukopenia, Chronic otitis med... ORPHA:33355
Hyperekplexia 4
High palate, Kyphoscoliosis OMIM:618011
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, Cryptorchidism, High, narrow palate, Hypogonadism, High palate, Micropenis, Decre... OMIM:612513
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Roussy-Lévy Syndrome
Kyphoscoliosis, Scoliosis ORPHA:3115
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Premature ovarian insufficiency, Cachexia, Hypertension, Scoliosis... OMIM:610965
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... OMIM:268020
Parkinson-Dementia Syndrome
Kyphoscoliosis OMIM:260540
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Azoosp... ORPHA:300298
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Aspartylglucosaminuria
Hepatomegaly, Malabsorption, Splenomegaly, Arthritis, Macroglossia, Anterior beaking of lumbar ve... ORPHA:93
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Weight loss, Mastocytosis, Sarcoma ORPHA:66661
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Aplastic anemia, Myelodysplasia, Cryptorchidism, Lymphoma, Cleft palat... ORPHA:221016
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Bone marrow hypocellularity, Abnormally low T cell receptor excisio... OMIM:619767
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti... ORPHA:398063
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Hematological neoplasm, Keratitis, Bronchiecta... ORPHA:1163
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Hyperhidrosis, Weight loss, Neoplasm, Bone marro... ORPHA:391
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Thrombocytopenia, Neutropenia, Decreased methylmalonyl-CoA mutase act... OMIM:251100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Myocardial infarction, High palate, Scoliosis, Biconcave vertebral bodies, Failur... OMIM:236200
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Decreased serum testosterone concentrati... ORPHA:2959
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Short neck, Knee osteoarthritis, T... ORPHA:93284
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis OMIM:301107
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, High, narrow palate, Scoliosis, Failure to thrive ORPHA:536516
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell carcinoma of... OMIM:620365
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyos... ORPHA:647
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Idiopathic Bronchiectasis
Acute infectious pneumonia, Myocardial infarction, Bronchiectasis, Cachexia ORPHA:60033
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Rothmund-Thomson Syndrome
Small for gestational age, Skin rash, Myelodysplasia, Aplastic anemia, Telangiectasia of the skin... ORPHA:2909
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... ORPHA:90795
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... ORPHA:2965
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit... OMIM:224230
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Distal Deletion 12Q
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in ... ORPHA:96149
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis OMIM:617977
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Abno... ORPHA:167
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis OMIM:616668
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Hepatoportal Sclerosis
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Cachexia, Weight loss ORPHA:1979
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reti... ORPHA:101096
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Diabetes mel... ORPHA:101330
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis OMIM:618006
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Le... ORPHA:381
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Cardiac arrest, Pu... ORPHA:139402
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma of the tongue OMIM:613988
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Stomatitis, Eczema, Celiac disease, Lymphoma, T... OMIM:212750
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, ... OMIM:614602
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Platyspondy... ORPHA:296
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... OMIM:614880
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Short neck ORPHA:1438
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Small for gestational age... OMIM:208085
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Weight loss, Central hypoth... ORPHA:514
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Failu... ORPHA:1018
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Sinusitis, Aplasia of the thymus, Pneumonia, D... ORPHA:83471
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastro... ORPHA:309288
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Cachexia, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Ab... ORPHA:800
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435660
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Squamous cell carcinoma, Telangiectasi... OMIM:268400
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hype... ORPHA:729
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Noonan Syndrome 1
Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Abnormal bl... OMIM:163950
Autosomal Recessive Spastic Paraplegia Type 77
Bilateral cryptorchidism, Neuromuscular dysphagia, Kyphoscoliosis ORPHA:466722
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Abnormality of the clitoris, Cirrhosis, Anemia ORPHA:101028
Flynn-Aird Syndrome
Kyphoscoliosis OMIM:136300
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis ORPHA:370980
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Crypt... OMIM:615381
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Villous atrophy, T lymphocytopenia, Infectious encephaliti... ORPHA:391487
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Myocardial infarction, Pulmon... ORPHA:447
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Cleft soft palate, Hyperlordosis, Precocious puberty, Short neck, High, narrow pal... OMIM:619950
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Small for gestational age, Acne, Cryptorchidism, High, narrow palate, Gland... ORPHA:1439
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Thoracolumbar scoliosis, Portal hypertension, Hiatus hernia, Pan... OMIM:610199
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Splenomegaly, Neutropenia, Hepatitis, Chronic hepatitis, Sclerosi... OMIM:308230
Chronic Mucocutaneous Candidiasis
Dyspareunia, Skin rash, Cheilitis, Hepatitis, Abnormal vagina morphology ORPHA:1334
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Lymphoproliferative disorder, Skin rash, Abnormality o... ORPHA:33276
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Kyphoscoliosis, Short neck, Scoliosis, Decreased bo... ORPHA:391408
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary ... ORPHA:2348
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphoma, Re... ORPHA:47612
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... OMIM:617100
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Recurrent skin infections, Superficial dermal perivascular infla... ORPHA:542643
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pa... OMIM:246200
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Raynaud phenomenon, Renal transitional cell... ORPHA:2874
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th... OMIM:301082
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis, Dysphagia OMIM:614707
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Pancytopenia, Thrombocytopen... ORPHA:2785
Dubowitz Syndrome
Sacral dimple, Hypospadias, Eczema, Aplastic anemia, Cryptorchidism, Velopharyngeal insufficiency... OMIM:223370
Rett Syndrome
Cachexia, Kyphosis, Gastroesophageal reflux, Scoliosis, Abnormal T-wave, Prolonged QTc interval OMIM:312750
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Scoliosis, Cachexia, Short neck ORPHA:371364
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thromboc... ORPHA:292
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, E... ORPHA:99921
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... ORPHA:85443
Leopard Syndrome 1
Bundle branch block, Hypospadias, Kyphoscoliosis, Short neck, Delayed menarche, Cryptorchidism, C... OMIM:151100
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... ORPHA:77301
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspartate aminot... OMIM:614921
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Cryptorchidism, Gastroesophageal reflux, High palate OMIM:615803
Trisomy 18
Cachexia, Cryptorchidism, Esophageal atresia, Cleft palate, Narrow palate, Abnormal morphology of... ORPHA:3380
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia OMIM:616553
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Abnormal bleeding, Kyphoscoliosis, ... ORPHA:14
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hype... OMIM:252930
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, M... ORPHA:3260
Joubert Syndrome 18
Lobulated tongue, Intrahepatic biliary atresia, Cleft palate, Kyphoscoliosis OMIM:614815
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis, Failure to thrive in infancy, Cachexia ORPHA:702
Marshall-Smith Syndrome
Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Thoracic kyph... OMIM:602535
Bloom Syndrome
Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, Stomach cancer,... ORPHA:125
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Hemolytic anemia, ... OMIM:619487
Ataxia-Oculomotor Apraxia Type 4
Obesity, Kyphoscoliosis, Telangiectasia ORPHA:459033
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... ORPHA:2796
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis OMIM:607855
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis OMIM:180800
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... OMIM:131100
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Female infertility, Asplenia, Bronchiectasis, Chronic s... ORPHA:244
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:158048
Acrootoocular Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Kyphoscoliosis,... ORPHA:2980
Acute Liver Failure
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, ... ORPHA:90062
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia ORPHA:85447
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... OMIM:259720
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash... OMIM:619381
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Kyphoscoliosis, Platyspondyly, Cervical instability, Erythroderma, Thoracolumbar ky... OMIM:617425
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Splenomegaly,... ORPHA:829
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, Bi... OMIM:209900
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Shortened QT inter... ORPHA:143
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss,... ORPHA:764
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... OMIM:618165
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Vasculitis, Arthritis, ... ORPHA:91138
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Kyphoscoliosis, Short neck, Cryptorchidism, Patent ductus ar... OMIM:102500
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Narrow palate, High palate, Cachexia OMIM:618186
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hypot... ORPHA:79259
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Abnormal mesentery morphology, Car... ORPHA:3463
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsiv... ORPHA:2575
Brucellosis
Liver abscess, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liver, Infectio... ORPHA:1304
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... OMIM:603467
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Jejunal atresia, Kyphoscoliosis, Ileal atresia, Cryptorchidism, Uterus... OMIM:618820
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Lymphoma, Weight loss ORPHA:545
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Short neck, Cryptorchidism, High, narrow palate, Cleft palate, Scoliosis, Vertebr... OMIM:309583
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Abnormal bleeding, Juvenile colonic polyposis, Rectal p... ORPHA:157794
Fanconi Anemia, Complementation Group N
Aplastic anemia, Short neck, Medulloblastoma, Neuroblastoma, Nephroblastoma OMIM:610832
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100075
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Short neck, High, narrow palate, Gastrointestinal inflammation, Inflammati... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, Short neck, High, narrow palate, Gastrointestinal inflammation, Inflammati... ORPHA:99228
Monosomy X
Myocardial infarction, Short neck, High, narrow palate, Gastrointestinal inflammation, Inflammati... ORPHA:99226
Turner Syndrome
Myocardial infarction, Short neck, High, narrow palate, Gastrointestinal inflammation, Inflammati... ORPHA:881
Dystonia-Deafness Syndrome 1
Small for gestational age, Kyphoscoliosis, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achal... OMIM:607371
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... ORPHA:97287
Immunodeficiency 56
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Recurrent pneumonia, Bronchiecta... OMIM:615207
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Kyphoscoliosis OMIM:260600
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Cutaneous angiolipomas, Visceral angiomatosis, Congestive heart failure, Abnormal... ORPHA:53721
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Weight loss, Hepatospleno... OMIM:209950
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Rectal prolapse, Abnormal form of the v... ORPHA:904
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Diabetes mellitus, Cholangitis, Psoriasiform d... ORPHA:183675
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Rig... ORPHA:100085
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Cleft soft palate, Kyphoscoliosis, Cryptorchidism, Cleft palate, Micropenis OMIM:616331
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Neutropenia, T lymphocy... OMIM:300755
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Neoplasm, Periodontitis, Hepatomega... ORPHA:1775
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Diabetes mellitus, Sacral dimple, Long uvula, Kyphoscoliosis, Cryptorchidism,... ORPHA:536532
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, High palate, Bruising susceptibilit... OMIM:612350
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Coffin-Siris Syndrome 6
High, narrow palate, Gastroesophageal reflux, Cleft palate, Kyphoscoliosis OMIM:617808
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... ORPHA:436159
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Weight l... ORPHA:3287
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Weight los... ORPHA:71273
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis OMIM:607831
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Leukoc... ORPHA:2070
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Malabsorption, Abnormalit... ORPHA:2315
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... ORPHA:440713
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ... OMIM:184100
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Kyphosis... OMIM:162300
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Splenomegaly, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis... OMIM:181000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Poems Syndrome
Diabetes mellitus, Lymphoproliferative disorder, Polycythemia, Abnormality of the endocrine syste... ORPHA:2905
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Sudden cardiac... ORPHA:537
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervert... OMIM:607944
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Zollinger-Ellison syndrome, Increased glucagon level... ORPHA:438274
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Schinzel-Giedion Syndrome
Short neck, Anteriorly placed anus, High palate, Hepatoblastoma, Micropenis, Myeloid leukemia, St... ORPHA:798
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiomegaly, Cryptorchidism, Pate... OMIM:300967
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Psoriasiform dermatitis, Deep dermal perivascular inflammatory ... ORPHA:49041
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly OMIM:238970
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotension, Reduced c... ORPHA:95512
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... ORPHA:300373
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... ORPHA:44890
Robinow Syndrome
Fused thoracic vertebrae, Decreased serum testosterone concentration, Small scrotum, Small for ge... ORPHA:97360
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis OMIM:118220
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Pseudobulbar paralysis, Cervical spondylosis, Kyphoscoliosis ORPHA:199354
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepa... ORPHA:319218
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology, Abnormali... ORPHA:2075
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Va... ORPHA:324964
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Short neck, Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy, Fai... ORPHA:1842
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Nephroblastoma
Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hypertension, Neoplasm, Nephroblastoma ORPHA:654
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... OMIM:613404
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, Aganglionic megacolon... ORPHA:388
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology, Neoplasm of the oral cavity ORPHA:525
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis OMIM:604563
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,... OMIM:613490
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis ORPHA:99950
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Alveolar Echinococcosis
Low back pain, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Gastrointestinal at... ORPHA:436252
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a... ORPHA:589
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
De Barsy Syndrome
Kyphoscoliosis, Cryptorchidism, Patent ductus arteriosus, High palate, Failure to thrive ORPHA:2962
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, Ty... OMIM:618549
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Luscan-Lumish Syndrome
Recurrent otitis media, Irregular menstruation, Obesity, Polycystic ovaries OMIM:616831
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100080
Huntington Disease-Like 2
Weight loss ORPHA:98934
Fanconi Anemia
Leukopenia, Abnormality of the liver, Neoplasm, High palate, Abnormality of the uterus, Abnormali... ORPHA:84
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Hypohidrosis ORPHA:363523
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellu... ORPHA:549
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Intestinal malrotation, Tracheoesophageal fistula, High palate, Scolio... ORPHA:115
Monosomy 18P
Kyphoscoliosis, Short neck, Cleft palate, Hypertension, Hypothyroidism ORPHA:1598
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac... ORPHA:3202
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Failure to thrive in infancy, Kyphoscoliosis, Decreased body... OMIM:610758
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia, Weight loss ORPHA:50251
Kaposiform Lymphangiomatosis
Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Metrorrhagia, Epistax... ORPHA:464329
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Abnormal ery... ORPHA:766
Dyskeratosis Congenita, Digenic
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Gastroesophageal reflux, Ora... OMIM:620040
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis... ORPHA:171876
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Acute hepatic failure, Hemolytic anemia, Elevated circulating a... OMIM:277900
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Anhidrosis, Diabetes mellitus, Cachexia, Splenomegal... ORPHA:191
Gm1 Gangliosidosis
Hyperlordosis, Splenomegaly, Patent ductus arteriosus, Kyphosis, Congestive heart failure, Dyspha... ORPHA:354
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Ma... ORPHA:142
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Scoliosis OMIM:145900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopeni... OMIM:605432
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Acquired Von Willebrand Syndrome
Normocytic anemia, Intracranial hemorrhage, Joint hemorrhage, Persistent bleeding after trauma, G... ORPHA:99147
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Abnormal curvature... ORPHA:93360
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Cachexia, Abnormal heart rate variability,... ORPHA:206436
Rift Valley Fever
Elevated hepatic transaminase, Back pain, Abnormal bleeding, Skin rash, Hematemesis, Thrombocytop... ORPHA:319251
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin-resistant diabetes mellitus, Lymphoma, Hyp... ORPHA:79086
Juvenile Amyotrophic Lateral Sclerosis
Scoliosis, Cachexia, Dysphagia ORPHA:300605
Kagami-Ogata Syndrome
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosis, Pulmonar... OMIM:608149
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Ne... ORPHA:73263
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Chronic Hiccup
Weight loss ORPHA:396
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100082
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria... OMIM:612541
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Basal cell carcinoma, Hemangioma, Kyphoscoliosis OMIM:163200
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... ORPHA:100078
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis OMIM:118200
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren... OMIM:612444
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Chronic otitis media, Bronchiectasis, Recurrent sinusitis OMIM:300991
Bacterial Toxic-Shock Syndrome
Myositis, Sinusitis, Fasciitis, Increased circulating myelocyte count, Ecchymosis, Infectious enc... ORPHA:36234
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Patent ductus arteriosus, High palate, Neutropenia, Failure to thrive, Hypothyroi... OMIM:618005
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Short neck, Vertebral wedging, Decreased anterioposterior diameter of lumbar vert... ORPHA:3101
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Throm... ORPHA:355
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Thoracolumb... ORPHA:231720
Combined Oxidative Phosphorylation Deficiency 32
Gastroesophageal reflux, Kyphoscoliosis, Dysphagia OMIM:617664
Familial Thrombocytosis
Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Myelodysplasia, Splenomegal... ORPHA:71493
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Thrombocytopenia, Congestive heart failure, Hepatitis, ... ORPHA:454836
Joint Laxity, Short Stature, And Myopia
Cervical kyphosis, Kyphoscoliosis OMIM:617662
Congenital Myopathy 13
Kyphoscoliosis, Cryptorchidism, Cleft palate, High palate, Scoliosis OMIM:255995
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Erythro... ORPHA:39041
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Lumbar hyperlordosis, Tricuspid regurgitation, Pneumonia, Ovoid vertebral bodies, R... OMIM:253200
Isaacs Syndrome
Weight loss ORPHA:84142
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Anterior pituitary hypoplasia, Su... ORPHA:466791
Episodic Ataxia Type 1
Kyphoscoliosis, Scoliosis, Hyperhidrosis ORPHA:37612
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Central Core Disease
Kyphoscoliosis ORPHA:597
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Skin rash, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Patent ductus arteriosus, Hepatosplenomegaly, Mac... ORPHA:397709
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... OMIM:261000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... OMIM:603041
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Pneumo... ORPHA:309282
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac... OMIM:224120
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Abnormality of the thyroid gland, Celiac disease, J... ORPHA:186
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Cryptorchidism, Kyphosis, Cleft palate, High palate, Abnormality of ... ORPHA:3063
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Congenital kyphoscoliosis, Kyphoscoliosis, Cryptorchidism, Cleft palate... ORPHA:536471
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Pulmonary arterial hypertensio... ORPHA:77261
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... OMIM:608594
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:220295
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... OMIM:618108
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis OMIM:231005
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hyperhidrosis, In... OMIM:300942
Von Hippel-Lindau Disease
Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary... ORPHA:892
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Asplenia OMIM:618948
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Loeys-Dietz Syndrome 5
Failure to thrive in infancy, Cleft soft palate, Kyphoscoliosis, Eosinophilic infiltration of the... OMIM:615582
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Anemia, ... ORPHA:139411
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Bilateral cryptorchidism, Congestive heart failure, Right bundle branch block, Hy... OMIM:617403
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Platyspondyly, Scoliosis, Decreased body weight OMIM:614856
Acrorenal-Mandibular Syndrome
Absent nipple, Kyphoscoliosis, Hemivertebrae, Uterus didelphys, Narrow palate, Bicornuate uterus,... OMIM:200980
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... ORPHA:90003
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis... OMIM:210900
Stevens-Johnson Syndrome
Acute hepatic failure, Dyspareunia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, A... ORPHA:36426
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Kyphosis, Congest... OMIM:615512
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... OMIM:616113
Fryns-Smeets-Thiry Syndrome
Scoliosis, Cachexia ORPHA:2058
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Kyphoscoliosis, Dysphagia ORPHA:98805
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Osteoarthritis, Platyspondyly, Sclerotic vertebral endplates, Decreased cervical ... OMIM:208230
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Crisponi/Cold-Induced Sweating Syndrome 1
Kyphoscoliosis, Short neck, Keratitis, Hyperhidrosis, High palate OMIM:272430
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Neoplasm, Weight loss ORPHA:168811
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Kyphoscoliosis, Keratitis, Leukocyto... OMIM:308300
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Kyphoscoliosis, Bilateral cryptorchidism, Pyloric ... OMIM:617402
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Episodic hype... ORPHA:276621
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Dysphagia OMIM:275900
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Short neck, Malabsorption,... ORPHA:2176
Ullrich Congenital Muscular Dystrophy 2
High palate, Kyphoscoliosis OMIM:616470
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum lepti... ORPHA:280365
Rat-Bite Fever
Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Chronic oral candidiasi... OMIM:614162
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Inflammation of the large... OMIM:301074
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis OMIM:214400
Contractural Arachnodactyly, Congenital
Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Patent ductus arteriosus, Mitral regurgita... OMIM:121050
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Kyphoscoliosis OMIM:255710
Galloway-Mowat Syndrome 7
Eczema, Kyphoscoliosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cleft palate, ... OMIM:618348
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Weight loss, Goiter OMIM:188580
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
8P23.1 Microdeletion Syndrome
Hypospadias, Short neck, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss, High pal... ORPHA:251071
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis OMIM:617105
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... OMIM:171400
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Shortened QT inter... ORPHA:99880
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Short neck, Hemivertebrae, Punctate vertebral calcifications, Scoliosis, Erythrod... OMIM:302960
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Congestive heart failure, L... ORPHA:67
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Positiv... ORPHA:29072
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Scoliosis, Ne... ORPHA:649
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Kyphoscoliosis OMIM:620075
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Vertebral wedging, Elevated circulating alkaline phosphatase concentration, Scoli... OMIM:610968
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Inflammation of the large intestine, Intestinal obstruction, Weig... ORPHA:26790
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Leukocytosis, D... OMIM:615895
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Anterior beaki... ORPHA:584
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Seborrheic dermatitis, Hydrocele testis, Multiple lipomas, Scoliosis,... ORPHA:276280
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous war... ORPHA:90362
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Short neck, Thoracic platyspondyly, Paten... ORPHA:457395
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer, Cachexia, Malabsorption ORPHA:3217
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Congestive heart failure, Irregular menstruation, Uterine leiomyo... OMIM:616482
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Adrenocorticotropin deficien... ORPHA:199296
Larsen-Like Syndrome
Recurrent otitis media, Cleft palate, Kyphoscoliosis OMIM:608545
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Thoracolumbar scoliosis, Kyphoscoliosis, Mitral re... ORPHA:230851
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Multiple myeloma, Hypotension, Arrhythmia, ... ORPHA:188
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart fai... ORPHA:94080
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Villous atrophy, Small for gestational age, Gastritis, Increa... ORPHA:84064
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Rec... OMIM:266600
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... OMIM:171420
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated gamma-glutamyltransferase level, Hepatic steatosis,... OMIM:619573
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Thoracic kyphosis,... OMIM:300232
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Neoplasm of the gastrointestinal tract... ORPHA:636
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Scoliosis, Dysphagia OMIM:619574
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolyti... ORPHA:809
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis, Short hard palate ORPHA:1969
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis OMIM:184252
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Cervical spine... ORPHA:536467
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Large for gestational age, Dysphagia, Hepatoblastoma ORPHA:254519
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Abnormality of the hypothalamus-pi... ORPHA:900
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, High palate, Eryth... ORPHA:35173
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemorrhage, Hyperpla... ORPHA:79318
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short... OMIM:611881
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of ... ORPHA:217253
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Neoplasm of... ORPHA:100086
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Kyphoscoliosis, Platyspondyly, Abnormality of the vertebral column, Gastroesop... ORPHA:93316
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Recurrent pneumonia, Ileus, Bili... OMIM:219700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Neuroblastoma, Susceptibility To, 1
Ganglioneuroblastoma, Weight loss, Hypertension, Neuroblastoma, Failure to thrive, Ganglioneuroma... OMIM:256700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Cleft palate, Cervical spine instability, Platyspondyly, Decreased body weight OMIM:615349
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Gastrointestinal dys... ORPHA:330001
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... OMIM:616100
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... OMIM:115310
Huntington Disease
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index, Abnormal libido ORPHA:399
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Tetrasomy 15Q26
Patent ductus arteriosus, High palate, Kyphoscoliosis OMIM:614846
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, External genital hypoplasia, Kyphoscoliosis, Large for gestational age, Short neck,... ORPHA:96334
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the... ORPHA:722
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Hypoplas... OMIM:202010
Geroderma Osteodysplasticum
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Per... OMIM:231070
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, High palate, Micropeni... ORPHA:457359
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Malabsorption, Weigh... ORPHA:79430
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... ORPHA:573278
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Cardiac arrest, Kyphoscoliosis, Short neck, Acanthocytosis, Scoliosis, Poikilo... OMIM:618947
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... ORPHA:3455
Stickler Syndrome
Cachexia, Kyphosis, Osteoarthritis, Short hard palate, Spinal canal stenosis, Uveitis, Abnormal f... ORPHA:828
Charcot-Marie-Tooth Disease, Type 4D
Kyphoscoliosis OMIM:601455
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Thoracic scoliosis, Abnormal thalamus morphology, Kyphoscoliosis ORPHA:300570
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Congenital hypothyroidism, Platyspondyly, Thoracic kyphosis... OMIM:271510
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Huntington Disease-Like 2
Weight loss OMIM:606438
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Schwannoma, Odynophagia, Jaw claudication, Weight loss, Neoplasm, Sync... ORPHA:221098
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Scoliosis, Intervertebral space narrowing, Abnormal form of the vertebral bodies ORPHA:263463
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Gastroesophageal reflux, High pa... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Gastroesophageal reflux, High pa... ORPHA:98914
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Thoracic scoliosis, Hypospadias, Cervical kyphosis, Kyphoscol... OMIM:114290
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... ORPHA:2969
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... ORPHA:98870
Spinocerebellar Ataxia, Autosomal Recessive 31
High palate, Lumbar kyphoscoliosis, Dysphagia OMIM:619422
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Kyphoscoliosis, Short neck, Protruding tongue, Cryptorchidism, Obesit... OMIM:309580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis ORPHA:96190
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Erdheim-Chester Disease
Osteomyelitis, Hypogonadotropic hypogonadism, Skin rash, Retroperitoneal fibrosis, Congestive hea... ORPHA:35687
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Annular pancreas, Ankyloglossia, Kyphoscoliosis ORPHA:488642
Wolfram Syndrome 2
Abnormal bleeding, Diabetes mellitus, Primary amenorrhea, Gastric ulcer, Oligomenorrhea OMIM:604928
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Cleft palate, Polycystic ovaries ORPHA:1770
Bronchogenic Cyst
Abnormal peritoneum morphology, Back pain, Pneumonia, Abnormal stomach morphology, Abnormal lumba... ORPHA:2357
Sponastrime Dysplasia
Lumbar hyperlordosis, Hypospadias, Small for gestational age, Kyphoscoliosis, Precocious puberty,... ORPHA:93357
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst, Elevated circulating alkaline phosph... OMIM:618188
Occipital Horn Syndrome
Hiatus hernia, Kyphosis, Jaundice, High, narrow palate, Hepatitis, Cholestasis, Dysphagia, Platys... ORPHA:198
Floating-Harbor Syndrome
Hypospadias, Kyphoscoliosis, Short neck, Celiac disease, Cryptorchidism, Glandular hypospadias, A... OMIM:136140
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Atrioventricular block, Abnormal form of the vertebral bodies, Polycystic ov... ORPHA:371428
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Neo... ORPHA:723
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Leukoc... ORPHA:20
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension, Gastric ulcer, Delayed puberty, Dysplasia of second lumbar v... OMIM:208060
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Kyphoscoliosis, Short neck, Precocious puberty, Cryptorch... ORPHA:2044
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Prader-Willi Syndrome
Small scrotum, Diabetes mellitus, Decreased response to growth hormone stimulation test, External... ORPHA:739
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:95494
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Hepatosplenomegaly, Vertebral segme... ORPHA:263508
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Neoplasm, Pheochromocy... OMIM:171300
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Marfan Syndrome
Arthralgia/arthritis, Cachexia, Kyphosis, Congestive heart failure, High, narrow palate, Cleft pa... ORPHA:558
Castleman Disease
Myelofibrosis, Abnormality of the gastrointestinal tract, Intestinal obstruction, Thrombocytopeni... ORPHA:160
Seckel Syndrome
Scoliosis, Cachexia ORPHA:808
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Hepatic ste... OMIM:619525
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, ... OMIM:614527
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Leukocytosis, Abdominal obesity, Hypoplasia of the ova... OMIM:619321
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, ... OMIM:151660
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis ORPHA:101003
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus, Small for gestational age OMIM:269880
Igg4-Related Kidney Disease
Lymphadenitis, Lymphocytoma cutis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abn... ORPHA:449395
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hyp... ORPHA:95409
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Dysphagia, Weight loss, High palate, Scoliosis, Aspiration pneumon... ORPHA:2020
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Skin rash... ORPHA:50918
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614935
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Tubulointerstitial nephrit... ORPHA:797
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Right ventricular failure, Increased pulmonary vascular resistance, Decreased ferti... ORPHA:60025
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Raynaud phenomenon, Weight loss, Cardiom... ORPHA:767
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... ORPHA:415
Juvenile Huntington Disease
Weight loss ORPHA:248111
Focal Myositis
Weight loss ORPHA:48918
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Vasculitis, Hepatitis, Cheilitis, C... ORPHA:2331
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Osteogenesis Imperfecta, Type Xx
Narrow palate, Vertebral compression fracture, High palate, Kyphoscoliosis OMIM:618644
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... ORPHA:3208
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... ORPHA:97685
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss, Arthritis... OMIM:617321
Wrinkly Skin Syndrome
Cryptorchidism, Failure to thrive, High palate, Kyphoscoliosis ORPHA:2834
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Kyphoscoliosis, Hyperlordosis, Schwannoma, Ossifying fibroma, Hypertrophic cardiomyopa... ORPHA:363700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Lumbar hyperlordosis, Tricuspid regurgitation, Mitral stenosis, Kyphoscolio... OMIM:143095
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Neutropenia, Hyperhidrosis, Leukopenia, Prolonged p... ORPHA:2330
Lujo Hemorrhagic Fever
Fulminant hepatitis, Odynophagia, Hyperhidrosis, Leukopenia, Ecchymosis, Maculopapular exanthema,... ORPHA:319213
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Low back pain, Hypereosinophilia, Weight... ORPHA:449400
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Gastrointe... OMIM:276700
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio... ORPHA:679
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Abdominal situs inversus, Chronic sinusitis OMIM:619607
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Thrombocytopenia ORPHA:90060
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Hypertension, Optic nerve glioma, Pheochromocytoma, ... OMIM:162200
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Kyphoscoliosis, Cerebral hemorrhage, Atlantoaxial instability, Subdura... ORPHA:536545
Orofaciodigital Syndrome I
Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, Hypertension, ... OMIM:311200
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Enthesitis, Hepatosplen... ORPHA:85408
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Larg... ORPHA:728
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjuncti... ORPHA:79128
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Hepatitis, ... ORPHA:509
Coffin-Siris Syndrome 1
Sacral dimple, Hypospadias, Intestinal malrotation, Duodenal ulcer, Cryptorchidism, Patent ductus... OMIM:135900
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Perioral eczema ORPHA:79242
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Kyphoscoliosis, Congestive heart failure, Recurrent pneumonia, Arter... OMIM:225400
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso... OMIM:619079
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Hypereosinophilia, Atopic dermatitis, We... ORPHA:2902
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Hyper... OMIM:215600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cleft palate, Irregular vertebral endplates, ... OMIM:271640
Williams-Beuren Syndrome
Colonic diverticula, Diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Kyphos... OMIM:194050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
High palate, Hypospadias, Kyphoscoliosis OMIM:210730
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis... OMIM:244400
Giant Cell Arteritis
Glossitis, Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Hyperhidrosis,... ORPHA:397
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Perry Syndrome
Weight loss ORPHA:178509
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Transient ischemic attack... ORPHA:500150
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Scoliosis, Tongue atrophy ORPHA:99956
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Abnormal thalamic MRI signal intensity, Optic neuri... ORPHA:83597
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis ORPHA:99750
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Cleft soft palate, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxia... OMIM:614557
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Increased circulating an... ORPHA:2976
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Cleft palate, Recurrent otitis media, P... OMIM:309350
African Trypanosomiasis
Conjunctivitis, Iritis, Hepatomegaly, Abnormal EKG, Abnormality of the endocrine system, Hepatosp... ORPHA:3385
Frank-Ter Haar Syndrome
Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, High ... OMIM:249420
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Vertebral compression fracture, Platyspondyly, Kyphoscoliosis OMIM:616507
Arthrogryposis And Ectodermal Dysplasia
Cleft palate, Diabetes mellitus, Kyphoscoliosis, Hypohidrosis OMIM:601701
Malt Lymphoma
B-cell lymphoma, Abnormality of the thyroid gland, Weight loss, Hyperhidrosis, Posterior uveitis,... ORPHA:52417
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis ORPHA:134
Multicentric Osteolysis, Nodulosis, And Arthropathy
Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis OMIM:259600
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal ... OMIM:219800
Revesz Syndrome
Oral leukoplakia, Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Hypospadias, Aganglionic megacolon, Kyphoscoliosis, Cryptorchidism, High, n... OMIM:309800
Intellectual Developmental Disorder, Autosomal Recessive 78
High palate, Kyphoscoliosis OMIM:620237
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Abnormal stomach morphology, Abnormal gall... ORPHA:512
Pallister-Killian Syndrome
Small scrotum, Short neck, Anteriorly placed anus, Bifid uvula, Hypospadias, Cryptorchidism, Pate... OMIM:601803
Otopalatodigital Syndrome, Type Ii
Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Cleft palate, Platyspondyly, Spondylolysis OMIM:304120
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
3Q27.3 Microdeletion Syndrome
Kyphoscoliosis ORPHA:397695
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc... ORPHA:221
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Huntington Disease-Like 1
Weight loss ORPHA:157941
You-Hoover-Fong Syndrome
Cleft palate, Kyphoscoliosis OMIM:616954
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Aspiration pneumonia, Weight loss ORPHA:216866
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... OMIM:137920
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight los... ORPHA:79078
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Kyphoscoliosis, Congestive heart failure, Prematur... OMIM:154700
Acrodermatitis Enteropathica
Glossitis, Malabsorption, Pustule, Cheilitis, Weight loss, Furrowed tongue, Conjunctivitis, Failu... ORPHA:37
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Kniest Dysplasia
Short neck, Cleft palate, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscoliosis, Recurren... OMIM:156550
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Ring Chromosome 7 Syndrome
Hypospadias, Heart murmur, Cleft palate, Hydrocele testis, Melanoma, Hypogonadism, Lumbar kyphosc... ORPHA:1449
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine p... ORPHA:309031
Restrictive Dermopathy 1
Hypospadias, Kyphoscoliosis, Adrenal hypoplasia, Patent ductus arteriosus, Submucous cleft hard p... OMIM:275210
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Basilar Impression, Primary
Kyphoscoliosis, Short neck OMIM:109500
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Weight loss, Pancreatic hypoplasia, Fa... ORPHA:99885
Multiple Myeloma
Splenomegaly, Functional abnormality of the gastrointestinal tract, Weight loss, Vertebral compre... ORPHA:29073
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Kyphosis, Weight ... ORPHA:576
Autosomal Recessive Spastic Paraplegia Type 9B
Kyphoscoliosis ORPHA:447760
Fatal Familial Insomnia
Weight loss, Dysphagia, Hyperhidrosis OMIM:600072
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Weight loss ORPHA:411703
Pemphigus Vulgaris
Weight loss ORPHA:704
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Chronic gastritis, Thoracolumbar scoliosis, Myocardial infarction, Bilateral cryp... OMIM:150230
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Rheumatoid Arthritis
Vasculitis, Rheumatoid arthritis, Weight loss OMIM:180300
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Short Syndrome
Diabetes mellitus, Weight loss ORPHA:3163
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Enlarged kidney OMIM:608978
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, High palate, Raynaud phenomenon, ... ORPHA:740
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th... ORPHA:93111
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Alg9-Cdg
Hepatomegaly, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples, Enlarged kidney ORPHA:79328
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Nocardiosis
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thy... ORPHA:31204
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Perry Syndrome
Weight loss OMIM:168605
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... ORPHA:79102
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, I... ORPHA:29207
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Hematoch... OMIM:175050
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Recurrent pneumonia, Weight ... ORPHA:420741
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... OMIM:229850
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... ORPHA:31826
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, R... ORPHA:91500
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryp... OMIM:270400
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Dilated cardiomyopathy, Weight loss, Mitral regurgitation, Dysphagia OMIM:607459
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... OMIM:619472
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Arthritis, Gastric ulcer, Hyperhidrosis OMIM:161700
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic... OMIM:181450
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... ORPHA:2388
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy OMIM:219000
Hereditary Late-Onset Parkinson Disease
Dysphagia, Orthostatic hypotension due to autonomic dysfunction, Weight loss ORPHA:411602
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Weight loss ORPHA:747
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss, High palate, Dysphagia, Hype... OMIM:164310
Congenital Tracheal Stenosis
Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, Duodenal stenos... ORPHA:141127
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Okamoto Syndrome
Splenomegaly, Bifid uterus ORPHA:2729
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia ORPHA:93271
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia ORPHA:2363
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias, Right ventricular hypertrophy OMIM:265380
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Hepatosplenomegaly, Small ... OMIM:619503
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Anterior hypopituitarism ORPHA:709
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Clitoral hyper... OMIM:268300
Goodpasture Syndrome
Pulmonary hemorrhage, Glomerulonephritis, Anemia, Weight loss OMIM:233450
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337

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 Inha

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 Inha.

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

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MGI Allele Allele Type Produced
Inhatm107074(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Inhaem1(IMPC)Cnrm Point Mutation Mice

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