Gene Summary

Name:
annexin A1
Synonyms:
Lpc1,  Lpc-1,  Anx-1,  Anx-A1,  C430014K04Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Hind Leg and Hip

20 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Anxa1 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 Anxa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... ORPHA:70482
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Weight loss, Intestinal obstruction, Crohn's... OMIM:266600
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis, Broad jaw, Increased bone mineral density ORPHA:178377
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level OMIM:603373
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:618157
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:301033
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Trichodentoosseous Syndrome
Frontal bossing, Taurodontia, Dolichocephaly, Increased bone mineral density OMIM:190320
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Esophageal neoplasm, Abnormal larg... ORPHA:2198
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Pycnodysostosis
Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Wormian bones, Osteolytic defec... OMIM:265800
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 level, D... ORPHA:171706
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... OMIM:301035
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma OMIM:104600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Pituicytoma
Increased circulating prolactin concentration, Hypogonadotropic hypogonadism, Pituitary hypothyro... ORPHA:251623
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:411593
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Osteopetrosis, Autosomal Dominant 1
Thickened calvaria, Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Ca... OMIM:607634
Mantle Cell Lymphoma
Weight loss, Anorexia, Abnormality of the gastrointestinal tract ORPHA:52416
Idiopathic Achalasia
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux ORPHA:930
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level OMIM:125700
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Pancreatitis, Lipoatrophy, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... ORPHA:26790
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Abdominal distention, Malabso... OMIM:613662
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Hirschsprung Disease
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... ORPHA:388
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71526
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... OMIM:617395
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly OMIM:619025
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Weight loss, Abdominal distention, Diarrh... ORPHA:160148
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Flynn-Aird Syndrome
Carious teeth, Increased bone density with cystic changes, Osteoporosis, Increased bone mineral d... OMIM:136300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Feeding difficulties, Weight loss, Microglossia, Nasogastric tube feeding in infanc... ORPHA:141152
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... ORPHA:95427
Isolated Anencephaly/Exencephaly
Anencephaly, Primary adrenal insufficiency ORPHA:1048
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Osteochondrosis, Arthritis, Joint stiffness, Progressive joint destructio... ORPHA:564003
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Immunodeficiency 17
Abnormal intestine morphology, Eczema, Failure to thrive, Recurrent otitis media, Recurrent gastr... OMIM:615607
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Tricho-Dento-Osseous Syndrome
Enamel hypomineralization, Obliteration of the calvarial diploe, Agenesis of incisor, Frontal bos... ORPHA:3352
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Decreased testicular size OMIM:614880
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma, Pituitary ad... OMIM:102200
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Micrognathia, Thin bony cortex, Wormian bones, Obtuse angle of mandible, Osteopenia, Wide anterio... ORPHA:85184
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Micrognathia, Prominent metopic ridge, Brachycephaly OMIM:275595
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Hypogonadism, Delayed puberty, Microcephaly OMIM:612079
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical sclerosis, Crani... OMIM:122860
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... ORPHA:90695
Congenital Short Bowel Syndrome
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... OMIM:615237
Solitary Rectal Ulcer Syndrome
Bloody diarrhea, Rectal prolapse, Tenesmus, Bloody mucoid diarrhea, Stercoral ulcer, Intermittent... ORPHA:209964
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, Osteoporosis, Wormian bones, Delayed eruption of teeth, Midface... OMIM:613849
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Myxedema
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Hypohidrosis OMIM:255900
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Pfapa Syndrome
Nausea and vomiting, Infectious encephalitis, Weight loss, Arthritis, Malabsorption, Abdominal pain ORPHA:42642
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... ORPHA:231720
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior pituitar... OMIM:221750
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... OMIM:300635
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic polyposis, Colon ... OMIM:610069
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Failure to thrive, Hepatitis, Diarrhea, Colitis OMIM:614602
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Abnormality of the elbow, Brachycephaly, Anterior plagiocephaly, Abnormality of cra... ORPHA:163649
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Ménétrier Disease
Anorexia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Vomi... ORPHA:2494
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Wormian bones, Abnormal joint morphology, Platybasia OMIM:166230
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:324575
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Gastritis, Perianal absce... OMIM:618108
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer, Skin rash, Anterior uveitis OMIM:616744
Tuberculosis
Weight loss ORPHA:3389
Triple A Syndrome
Adrenal insufficiency, Microcephaly, Anterior hypopituitarism ORPHA:869
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Wolfram-Like Syndrome
Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insipidus, Primary gonadal... ORPHA:411590
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Weight loss, Abdominal distention, Malabsorption, A... ORPHA:92050
Esophagitis, Eosinophilic, 2
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:610247
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... ORPHA:1876
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Micrognathia, Flared elbow metaphyses ORPHA:1423
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Eczema, Failure to thrive, Chronic gastritis, Art... OMIM:608809
Reticular Dysgenesis
Failure to thrive, Chronic otitis media, Weight loss, Malabsorption, Skin rash, Diarrhea ORPHA:33355
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Eosinophilic Gastroenteritis
Atopic dermatitis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Malabsorption, Steatorrhe... ORPHA:2070
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Septooptic Dysplasia
Diabetes insipidus, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased response t... OMIM:182230
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... ORPHA:95619
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Dysphagia, Feeding difficulties in infancy, Allergic rhin... ORPHA:411696
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Microcephaly OMIM:609981
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Micrognathia, Advanced ossification of carpal bones, Advanced tarsal ... OMIM:215045
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Agenesis of corpus callosum, Septo-optic dysplasia, Hypogonadotropic hy... ORPHA:95494
Immunodeficiency 70
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis OMIM:618969
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Micrognathia, Thickened calvaria, Large fontanelles, Brachycephaly, Osteopetrosis, ... ORPHA:2780
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Hypogonadotropic hypogonadism, Ab... OMIM:300200
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Wormian bones, Pathologic fracture, Dentinogenesis imperfecta,... ORPHA:166277
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Villous atrophy, Infectious encephalitis, Failure to thrive, Protracted diarrhea, Ma... OMIM:209920
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Slender build, Intestinal perforat... OMIM:603041
Cog2-Cdg
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... ORPHA:435934
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:151660
Malignant Peritoneal Mesothelioma
Peritonitis, Abdominal distention, Weight loss, Ileus, Abdominal pain ORPHA:168811
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Hypopituitarism, Central diabet... ORPHA:91354
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612702
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Acne, Hyperinsulinemia OMIM:615363
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... OMIM:619281
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Weight loss, Anorexia ORPHA:100083
Hao-Fountain Syndrome
Trigonocephaly, Delayed cranial suture closure, Large fontanelles OMIM:616863
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Wormian bones, Osteopenia, Joint hypermobility, Recurren... OMIM:610967
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Decreased thyroid-stimulating hormone level, Abnormality of thyro... ORPHA:95715
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnormality of t... ORPHA:280195
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Wormian bones, Joint hypermobility, Increased bone mineral ... OMIM:614856
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Feeding difficulties OMIM:612075
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Pycnodysostosis
Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Midface retrusion, Generalized ... ORPHA:763
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Delayed closure of the anterior fontanelle, Increased susceptibility to fractures,... OMIM:604922
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Diabetes mel... OMIM:615830
Grant Syndrome
Micrognathia, Large fontanelles, Brachycephaly, Joint dislocation, Wormian bones, Abnormal cortic... ORPHA:2097
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Large fontanelles, Mandibular aplasia, Retrognathia, Delayed cranial suture closure ORPHA:1832
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Acth Deficiency, Isolated
Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level OMIM:201400
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Intestinal obstruction, Gastrointestinal h... ORPHA:97286
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Albers-Schönberg Osteopetrosis
Carious teeth, Generalized osteosclerosis, Joint dislocation, Arthritis, Genu valgum, Frontal bos... ORPHA:53
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Skin rash, Enterocolitis, Se... OMIM:616050
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Wormian bones, Abnormal cortical bone morphology, R... ORPHA:970
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Micrognathia, Wormian bones, Platybasia, Multiple prenatal frac... OMIM:259420
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Ectopic posterior pi... ORPHA:67045
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Agenesis of corpus callosum, Caudate atrophy OMIM:618238
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Cranial hyperostosis, Mandibular prognathia, Osteopetrosis, Diaphyseal sclerosis, ... OMIM:259710
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis OMIM:618394
Retinitis Pigmentosa
Hypogonadism, Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Dysostosis, Stanescu Type
Carious teeth, Midface retrusion, Brachycephaly, Hypoplasia of the zygomatic bone, Abnormal denta... ORPHA:1798
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... OMIM:610755
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... ORPHA:95716
Budd-Chiari Syndrome
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Intestin... ORPHA:131
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Pituitary Stalk Interruption Syndrome
Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Adrena... ORPHA:95496
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis... OMIM:608612
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Diastrophic Dysplasia
Micrognathia, Joint dislocation, Elbow dislocation, Increased bone mineral density, Camptodactyly... ORPHA:628
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Pathologic fracture, Fr... OMIM:259700
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level ORPHA:94086
Buschke-Ollendorff Syndrome
Flat occiput, Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure... ORPHA:1306
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fa... ORPHA:2298
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Gangliocytoma
Abnormal prolactin level, Abnormality of the pituitary gland, Pituitary prolactin cell adenoma, H... ORPHA:251937
Premature Aging Syndrome, Penttinen Type
Micrognathia, Midface retrusion, Wormian bones, Delayed eruption of teeth, Osteopenia, Delayed cr... OMIM:601812
Dysosteosclerosis
Abnormal dental enamel morphology, Delayed eruption of teeth, Coarse metaphyseal trabecularizatio... ORPHA:1782
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Colonic eosinophilia, Eosinophilic ... OMIM:618999
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level ORPHA:95717
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Weight loss, Abdominal distention, Neoplasm of the liver, Abdominal pain ORPHA:90003
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... ORPHA:90791
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Primary adrenal insufficiency OMIM:617872
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Otopalatodigital Syndrome Type 1
Thickened calvaria, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Incre... ORPHA:90650
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus OMIM:304900
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Microcolon
Microcolon OMIM:251400
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... ORPHA:324964
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Grant Syndrome
Micrognathia, Wormian bones OMIM:138930
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Ac... ORPHA:67
Galactose Epimerase Deficiency
Nausea and vomiting, Weight loss, Feeding difficulties ORPHA:79238
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Weight loss, Abdominal diste... ORPHA:298
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Micrognathia, Osteopetrosis OMIM:617306
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Multiple prenatal fractures, Wormian bones, Bowing of limbs due... OMIM:259440
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Igg4-Related Thyroid Disease
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotoxicosis with... ORPHA:64744
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:248370
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Immunodeficiency 58
Dysphagia, Eczema, Allergic rhinitis, Helicobacter pylori infection, Recurrent cutaneous abscess ... OMIM:618131
Cronkhite-Canada Syndrome
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Malabsorption, I... ORPHA:2930
Peroxisome Biogenesis Disorder 13A (Zellweger)
Flat occiput, Micrognathia, Large fontanelles, Delayed closure of the anterior fontanelle, Dolich... OMIM:614887
Dysosteosclerosis
Micrognathia, Delayed closure of the anterior fontanelle, Sclerosis of skull base, Increased susc... OMIM:224300
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Adenoma sebaceum, Increased circulating cortisol level, Insulinoma, Thyro... OMIM:131100
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia, Cryptorchidism OMIM:307030
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Hereditary Central Diabetes Insipidus
Weight loss, Diarrhea, Vomiting ORPHA:30925
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Genu varum, Enlargement of the wrists, Abnormal sacroiliac joint morphol... ORPHA:289176
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Increased circulating renin level, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system,... OMIM:177735
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Increased susceptibility to fractures, Wormian bones, Reduced bone mineral density,... OMIM:166220
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Increased serum testosterone level, Macroorchidism, postpubertal, Adren... ORPHA:91348
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Multiple prenatal fractures, Wormian bones, Platybasia, Bowing ... OMIM:259410
Laryngotracheoesophageal Cleft Type 4
Cachexia, Intestinal atresia, Tracheoesophageal fistula ORPHA:93941
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Increased circu... ORPHA:189439
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Failure to thriv... OMIM:614700
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:264350
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, Mandibular prognathia, Sclerosis of skull base, Cubitus valgus, Wormia... OMIM:269300
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Enlarged pituitary gland, Hypogonadism, Panhypopit... ORPHA:91351
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... ORPHA:37042
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otitis media, Weight... ORPHA:47
Wolman Disease
Nausea and vomiting, Cachexia, Esophageal varix, Abdominal distention, Steatorrhea, Hepatic failu... ORPHA:75233
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Lipodystrophy, Adipose tissue loss, Diabetes m... ORPHA:528
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
Genetic Transient Congenital Hypothyroidism
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... ORPHA:226316
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Failure ... ORPHA:911
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Inflammation of the large intestine OMIM:617718
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... ORPHA:2965
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... OMIM:246200
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Cholelithiasi... OMIM:240300
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Weight loss, Pancreatitis, Chronic diarr... ORPHA:65682
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Sheehan Syndrome
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... ORPHA:91355
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Glossitis, D... OMIM:175500
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Cerebral calc... ORPHA:54595
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Cole-Carpenter Syndrome 2
Wormian bones, Osteopenia, Frontal bossing, Dentinogenesis imperfecta, Turricephaly, Coronal cran... OMIM:616294
Pelvic Organ Prolapse, Susceptibility To
Bowel incontinence, Rectal prolapse OMIM:176780
Shigellosis
Myocarditis, Failure to thrive in infancy, Bloody mucoid diarrhea, Tenesmus, Bloody diarrhea, Vom... ORPHA:810
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Decreased response to ... OMIM:615577
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Peritoneal Cystic Mesothelioma
Peritonitis, Abdominal distention, Weight loss, Abdominal pain, Constipation ORPHA:168816
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Huntington Disease-Like 2
Weight loss ORPHA:98934
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Vertebral fusion, Joint contracture of the hand, Wide anteri... OMIM:113000
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, I... ORPHA:786
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... OMIM:617321
Isaac Syndrome
Weight loss ORPHA:84142
Focal Myositis
Weight loss, Myositis ORPHA:48918
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, C... ORPHA:226313
Oculopharyngodistal Myopathy
High, narrow palate, High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyn... ORPHA:98897
Greig Cephalopolysyndactyly Syndrome
Metopic synostosis, Trigonocephaly, Craniosynostosis, Joint contracture of the hand, Frontal boss... OMIM:175700
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Cachexia, Pustule, Synoviti... ORPHA:77297
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Weight loss, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized lipodystrophy,... ORPHA:79086
Osteogenesis Imperfecta, Type I
Otosclerosis, Increased susceptibility to fractures, Wormian bones, Osteopenia, Joint hypermobili... OMIM:166200
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis ORPHA:96181
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Increased circulating... OMIM:610600
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Beemer-Ertbruggen Syndrome
Micrognathia, Increased bone mineral density ORPHA:1237
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Weight loss, Abdominal distention, Steatorrhea, Exocrine pan... ORPHA:309031
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Acne, Absence of secondary sex characterist... ORPHA:785
Refractory Celiac Disease
Jejunitis, Inflammatory abnormality of the skin, Villous atrophy, Weight loss, Malabsorption, Chr... ORPHA:398063
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Culler-Jones Syndrome
Diabetes insipidus, Hypogonadism, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism,... OMIM:615849
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limited shoulder movement, Knee osteoarthritis, Abnormal epiphyseal ossificat... ORPHA:93284
Bruck Syndrome 2
Increased susceptibility to fractures, Wormian bones, Knee flexion contracture, Osteopenia, Flexi... OMIM:609220
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:199296
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Delayed eruption of teeth, Enam... ORPHA:94089
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Failure to thrive, Multiple gastric polyps, Intussuscep... OMIM:174900
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Protrusio acetabuli, Hypoplasia of... OMIM:259600
Flynn-Aird Syndrome
Type II diabetes mellitus, Primary adrenal insufficiency, Abnormality of the thyroid gland, Cereb... ORPHA:2047
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Frontal bossing, Thin calvarium, Delayed cranial suture closure, Midface retrusion ORPHA:1129
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Abnormal circulating a... ORPHA:90790
X-Linked Hypophosphatemia
Genu varum, Sacroiliac joint synovitis, Rickets, Vertebral hyperostosis, Generalized osteoscleros... ORPHA:89936
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Decreased circulating IgA level, Lipodystrophy, Flexion contracture, Hyperins... OMIM:613327
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Camurati-Engelmann Disease
Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Diaphyseal scle... OMIM:131300
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Potocki-Shaffer Syndrome
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina OMIM:601224
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Micrognathia, Large fontanelles, Brachycephaly, Mandibular pro... OMIM:259775
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Osteogenesis Imperfecta, Type Xviii
Micrognathia, Thin bony cortex, Wormian bones, Generalized osteoporosis, Joint hypermobility, Rec... OMIM:617952
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea ORPHA:178029
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Bipartite patella, Sclerosis of middle finger phalanx, Osteopenia, Coarse metap... ORPHA:85188
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Thickened calvaria, Osteoporosis, Increased bone mineral density, Recurrent fractures OMIM:239000
Menkes Disease
Joint laxity, Osteoporosis, Wormian bones, Brachycephaly OMIM:309400
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Distal Monosomy 13Q
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Primary adrenal insufficiency ORPHA:1590
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... ORPHA:793
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Familial Pancreatic Carcinoma
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... ORPHA:1333
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... ORPHA:361
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Decreased serum ins... OMIM:619476
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Large fontanelles, Brachycephaly, Mandibular prognathia, Abnormality of the wrist, ... ORPHA:2511
Cleidocranial Dysplasia
Micrognathia, Delayed eruption of permanent teeth, Thickened calvaria, Increased susceptibility t... OMIM:119600
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute pancreatitis, Recur... OMIM:618935
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Bruck Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Wormian bones, Pterygium, Joint stiffness, Recu... ORPHA:2771
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss, Chronic diarrhea, Poor appetite, Glossitis ORPHA:2221
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, Wormian bones, Delayed eruption of teeth, Camptodactyly of finger ORPHA:2863
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypogonadism, Hypothyroidism, Cryptorchidism, Microcephaly OMIM:617575
Attrv30M Amyloidosis
Weight loss, Diarrhea, Constipation ORPHA:85447
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Calvarial osteosclerosis, Decreased sk... ORPHA:93324
Radiation Proctitis
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... ORPHA:70475
Osteopetrosis, Autosomal Recessive 8
Frontal bossing, Osteopetrosis OMIM:615085
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Rhabdoid Tumor
Nausea and vomiting, Weight loss, Neoplasm of the liver, Poor appetite, Abdominal pain ORPHA:69077
Alstrom Syndrome
Chronic active hepatitis, Tubulointerstitial nephritis, Diabetes insipidus, Insulin-resistant dia... OMIM:203800
Chromosome 16Q22 Deletion Syndrome
Micrognathia, Wormian bones, Frontal bossing, Wide anterior fontanel, Prominent metopic ridge OMIM:614541
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... ORPHA:293978
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... ORPHA:90038
Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:98293
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure OMIM:616602
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Premature adre... ORPHA:98754
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... OMIM:608594
Hypocalcemic Vitamin D-Dependent Rickets
Flat occiput, Genu varum, Thin bony cortex, Enlargement of the wrists, Rickets, Increased suscept... ORPHA:289157
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Pituitary Apoplexy
Increased circulating prolactin concentration, Hypergonadotropic hypogonadism, Increased circulat... ORPHA:95613
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Craniosynostosis, Skull asymmetry, Wormian bones, Wide anterior fontanel, Turricep... OMIM:601853
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Vomiting... ORPHA:1018
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Premature adre... ORPHA:98793
Acrodermatitis Enteropathica
Anorexia, Pustule, Failure to thrive, Cheilitis, Weight loss, Malabsorption, Furrowed tongue, Chr... ORPHA:37
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Osteoporosis, Wormian bones, Osteopenia, Frontal bossing, ... ORPHA:2788
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Nephroblastoma
Weight loss, Abdominal pain, Neoplasm of the liver ORPHA:654
Cole-Carpenter Syndrome
Micrognathia, Abnormal dental enamel morphology, Wormian bones, Delayed eruption of teeth, Fronta... ORPHA:2050
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Congenital hip dislocation, Delayed eruption of teeth OMIM:614450
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Premature adre... ORPHA:177904
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Premature adre... ORPHA:177901
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism ORPHA:300298
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Microcolon, Intestinal malrotation OMIM:619431
Antley-Bixler Syndrome
Elbow ankylosis, Brachycephaly, Hypoplasia of the zygomatic bone, Craniosynostosis, Frontal bossi... ORPHA:83
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczema ORPHA:703
Polyarteritis Nodosa
Weight loss, Pericarditis, Abdominal pain, Abnormality of the gastrointestinal tract ORPHA:767
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... OMIM:269700
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Wormian bones OMIM:601356
Geroderma Osteodysplasticum
Mandibular prognathia, Increased susceptibility to fractures, Osteoporosis, Wormian bones, Osteop... OMIM:231070
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma, Poor appetite ORPHA:312
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Thickened calvaria, Elbow ankylosis, Large fontanelles, Mandibular prognath... ORPHA:2658
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Micrognathia, Steep acetabular roof, Osteopenia, Metopic depres... ORPHA:313855
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... ORPHA:679
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Abnormality of the Leydig cells, Agenesis of corpus call... ORPHA:289548
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Lowry-Maclean Syndrome
Small anterior fontanelle, Micrognathia, Talon cusp, Trigonocephaly, Craniosynostosis, Osteoporos... ORPHA:2409
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Weight loss, Arthritis, Osteomyelitis... ORPHA:29207
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Huntington Disease-Like 2
Weight loss OMIM:606438
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Moynahan Syndrome
Cachexia ORPHA:2574
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Neuroendocrine Tumor Of The Rectum
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... ORPHA:100082
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Weight loss, Rheumatoid arthritis, Glomerulonep... ORPHA:99867
Kaposi Sarcoma
Weight loss, Diarrhea, Skin rash, Abnormality of the gastrointestinal tract ORPHA:33276
Immunodeficiency 27A
Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Increased inflammatory response, Diar... OMIM:209950
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Agenesis of corpus callosum, Posterior pituitar... ORPHA:563612
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Abnormality of the Leydig cells, Agenesis of corpus call... ORPHA:168558
Osteopetrosis And Infantile Neuroaxonal Dystrophy