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Gene: Casr MGI:1351351

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Gene Summary

Name:
calcium-sensing receptor
Synonyms:
Gprc2a,  cation sensing receptor,  CaR

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged uterus Casrtm1b(KOMP)Mbp HET Early adult 0.00
decreased prepulse inhibition Casrtm1b(KOMP)Mbp HET Early adult 3.57×10-09
increased circulating phosphate level Casrtm1b(KOMP)Mbp HET Early adult 3.26×10-05
small superior vagus ganglion Casrtm1b(KOMP)Mbp HET Early adult 0.00
abnormal pancreas morphology Casrtm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Casrtm1b(KOMP)Mbp HOM   Early adult 0.00
increased circulating calcium level Casrtm1b(KOMP)Mbp HET Early adult 4.42×10-05
edema Casrtm1b(KOMP)Mbp HET E15.5 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Casr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Parathyroid... OMIM:145980
Lipedema
Edema OMIM:614103
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Cerebral calcification, Hypocalcemia, Hypoparathyr... OMIM:146200
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Ric... OMIM:612089
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Basal ganglia calcification, Decreased glome... OMIM:601198
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Renal insuff... ORPHA:99879
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Polydipsia, Metaca... OMIM:617994
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:603233
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria, Hypercalcemia OMIM:239199
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Depression, Multiple small medullary renal cysts, Osteomalacia, R... OMIM:600740
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:94086
Hyperparathyroidism 4
Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma, Nephrolithiasis OMIM:617343
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Nephrocalcinosis, Medullary nephrocalcinosis, Ne... OMIM:143880
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Abnor... OMIM:241530
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Hypospadias, Osteopenia, Decreased response to growth hormone stimulation t... OMIM:614732
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia ORPHA:2668
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi... OMIM:619073
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating... OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Vascular calcification, Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal... OMIM:211900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Failure to thrive, Polydipsia, Ren... ORPHA:213
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Hypophosp... OMIM:307800
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hypophosphatemi... OMIM:239200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Metaphyseal irregularity, Subperioste... OMIM:264700
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ... OMIM:611590
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Elevated ci... OMIM:613388
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies,... ORPHA:93160
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal circulating calcium-phosphate regulating h... ORPHA:1031
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Proximal muscle weakness in upper limbs, Lower ... ORPHA:99845
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypoka... OMIM:617671
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ... ORPHA:289157
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300554
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Rickets, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hyperca... OMIM:602722
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300009
Familial Isolated Hypoparathyroidism
Nephropathy, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, C... ORPHA:2238
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:618618
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P... OMIM:612780
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, Elevate... OMIM:277440
Hypophosphatasia, Infantile
Unossified vertebral bodies, Elevated plasma pyrophosphate, Vertebral clefting, Anorexia, Disprop... OMIM:241500
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalc... ORPHA:36913
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... OMIM:154275
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Elevated circulating parathyroid hormone level, Rickets, Bulging... OMIM:600785
X-Linked Hypophosphatemia
Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Hyp... ORPHA:89936
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic A... OMIM:103580
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... OMIM:154276
Pseudohypoparathyroidism Type 1B
Cataract, Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parath... ORPHA:94089
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Short... OMIM:193100
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619361
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Failure to thrive, Bulging ep... OMIM:600081
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Osteopenia, Nephrocalcinosis, Metaphyseal cupping, Pathologic fracture, Hyp... OMIM:156400
Kenny-Caffey Syndrome, Type 1
Small hand, Slender long bone, Hypomagnesemia, Intrauterine growth retardation, Hypocalcemia, Dec... OMIM:244460
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Joint hypermobility, Elevated circulating calcitonin concentration, E... ORPHA:653
Central Diabetes Insipidus
Depression, Polydipsia, Failure to thrive, Anorexia, Hyponatremia, Lethargy, Weight loss, Nocturi... ORPHA:178029
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Iron deficiency anemia,... ORPHA:89937
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Proximal femoral epiphysiolysis, Failure to thrive... OMIM:162300
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pit... ORPHA:97289
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Pseudohypoparathyroidism Type 1C
Cataract, Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parath... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Elevated circulating creatine kinase concentration, Kyph... OMIM:614727
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Myoglobinu... OMIM:145600
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... ORPHA:358
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia,... OMIM:617913
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Hypercalcemia, Papillar... OMIM:145001
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Osteopenia, Rickets, Glycosuria, Failur... ORPHA:2088
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Renal hypophosphatemia, Delayed epiphyseal ossif... ORPHA:1652
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowi... ORPHA:249
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Rickets, Glycosuria, Large for gestational age, Hy... OMIM:616026
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Distal Renal Tubular Acidosis
Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Polydipsia, Increased susceptibili... ORPHA:18
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... OMIM:601678
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste... ORPHA:199343
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Chondrocalcinosis, Hypomagnesemia, Rhabdomyolys... OMIM:263800
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Subcutaneous calcification, Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Infantile Nephropathic Cystinosis
Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Polydipsia, Low-molecular-weight proteinur... ORPHA:411629
Parathyroid Carcinoma
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid ca... ORPHA:143
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati... OMIM:615605
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Genu valgum, Hematuria, Hypophosphatemia, Weight l... OMIM:219800
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop... ORPHA:199299
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs OMIM:146350
2P21 Microdeletion Syndrome
Hypogonadism, Cystinuria, Hypocalcemia, Nephrolithiasis ORPHA:163693
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Pseudohypoparathyroidism Type 1A
Cataract, Pituitary resistance to thyroid hormone, Band keratopathy, Hyperphosphatemia, Elevated ... ORPHA:79443
Oculoskeletodental Syndrome
Renal agenesis, Short femoral neck, Elbow flexion contracture, Hypercalcemia, Hypocalcemia, Splen... OMIM:618440
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Arterial calcif... ORPHA:280062
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Polydipsia, Pa... ORPHA:99880
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Osteoma... OMIM:227810
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Foot dorsiflexor weakness, Hypocalcemia, Elevated circulating creatine... OMIM:615883
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Tumoral Calcinosis, Normophosphatemic, Familial
Abnormal blood phosphate concentration, Conjunctivitis, Abnormal circulating calcium concentratio... OMIM:610455
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Hypocalcemic tetany, Postnatal growth retardation, Intrauterine growth retardation, H... ORPHA:93324
Diastrophic Dysplasia
Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproporti... OMIM:222600
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Failure to thrive, Congenital hypothyroidism, Hamstring contractur... ORPHA:96183
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Cataract, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopa... OMIM:609115
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Rickets, Failure to thrive, Polyuria, Osteoporosi... OMIM:560000
Hypophosphatasia
Failure to thrive in infancy, Abnormal metaphysis morphology, Bowing of the long bones, Short sta... ORPHA:436
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Depression, Rickets, Failure to thrive, Postnatal growth retardation, H... OMIM:212750
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Di... OMIM:613330
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Hypocalcemia, Hyperca... ORPHA:428
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Intra... ORPHA:99886
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Progressive Osseous Heteroplasia
Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossification in muscl... ORPHA:2762
Familial Tumoral Calcinosis
Nephrocalcinosis, Skin rash, Calcification of muscles ORPHA:53715
Addison Disease
Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Renal salt wasting, Hyperkalemi... ORPHA:85138
Cataract 42
Cataract, Developmental cataract OMIM:115900
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... OMIM:613845
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... OMIM:613677
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re... OMIM:179830
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Maffucci Syndrome
Pituitary adenoma, Growth delay, Multiple enchondromatosis, Goiter, Recurrent fractures, Neoplasm... ORPHA:163634
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Anorexia, Renal insufficiency, Hyperammonemia, Splenomegaly, Lethargy, Neutrop... ORPHA:79312
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Abnormal vagina morphology ORPHA:2123
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Kenny-Caffey Syndrome, Type 2
Severe short stature, Hyperphosphatemia, Hypoparathyroidism, Hypocalcemia, Abnormality of the med... OMIM:127000
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Short stature, Conjugated h... OMIM:211600
Dystonia 31
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dy... OMIM:619565
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... ORPHA:73224
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis OMIM:208155
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Pancytopenia, Hype... OMIM:606054
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Lethargy, Short stature, Growth delay, Reduced TSH respon... OMIM:618573
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Linear Verrucous Nevus Syndrome
Toe syndactyly, Hypophosphatemia, Abnormality of the kidney, Scoliosis, Reduced bone mineral dens... ORPHA:2611
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Recurrent fractures, Proteinuria, Polyphagia, Episodic hemolytic anemia, Increased blood... ORPHA:251004
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Hypogonadism, Lethargy, Osteoporosis, Abnormality o... ORPHA:79230
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Osteoarthritis OMIM:616833
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency, Hyperammonemia, Lethargy, Anemia, Dehydration ORPHA:28
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong... OMIM:613404
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Elbow contracture, Hip contracture, Elevated circulating creatine kinase concentration, Kyphoscol... OMIM:620386
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Decreased response to growth hormone stimulation test, Hypocalcemia, Ragged... OMIM:606407
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... OMIM:613673
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decreased ci... ORPHA:556030
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Increased bone mineral densi... OMIM:239000
Chronic Hiccup
Depression, Weight loss, Abnormal eating behavior, Dehydration ORPHA:396
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ... OMIM:309000
Infantile Myofibromatosis
Limitation of joint mobility, Osteolysis, Abnormal metaphysis morphology, Bone cyst, Abnormality ... ORPHA:2591
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... OMIM:241200
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Toe syndactyly, Failure to thrive, Intrauterine growth retardation, Cryptorchidism... OMIM:618958
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyp... OMIM:203400
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Rhizomelia, Flared metaphysis, Elevated circulating phytanic acid concentra... OMIM:215100
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Paraganglioma ... ORPHA:94080
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Astigmatism, Myopathy, Congenital hypoparathyroidism, Corneal op... ORPHA:2323
Oncogenic Osteomalacia
Abnormal vertebral morphology, Renal phosphate wasting, Pathologic fracture, Abnormality of the t... ORPHA:352540
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting,... OMIM:264350
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchidism, Knee... OMIM:214150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Congenita... OMIM:241410
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Cataract, Renal insufficiency, Hypocalcemia, Hypothyroidism, Hypoparathyroidism ORPHA:1563
Tuberous Sclerosis Complex
Chronic kidney disease, Renal angiomyolipoma, Abnormality of the kidney, Parathyroid adenoma, Pol... ORPHA:805
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Abnormal ulnar metaphysis morphology, Genu valgum, Metaphyseal ench... ORPHA:85198
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Pheochromocytoma, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Fractures of the long bones, Sclerosi... OMIM:602080
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Genu valgum, Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular ac... ORPHA:534
Hypercholanemia, Familial 1
Rickets, Failure to thrive, Increased serum bile acid concentration OMIM:607748
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive, Extramedullary hematopoiesis, Postnatal growth retardation, Hyperbili... ORPHA:79303
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Arthrogryposis multiplex congenita, Abnormal circulating creatine kina... OMIM:618484
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Splenomegaly, Hypocalcemia, Short stature, Reduced bone mineral density ORPHA:172
Trichomegaly
Cataract OMIM:190330
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole... ORPHA:47159
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Disproportionate short stature, Short femoral neck, Obesity, Genu valgum, Small epiphyses, Hip co... OMIM:618363
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Necrotizing myopathy, Exercise-induced rhabdomyolysis, My... ORPHA:423
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Osteomalacia, Sclerotic vertebral endplates, Ric... ORPHA:289176
Oculoskeletodental Syndrome
Short 5th finger, Nephrocalcinosis, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hy... ORPHA:557003
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Genu valgum,... OMIM:618913
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Lethargy, Hypophosph... ORPHA:469
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Classic Galactosemia
Depression, Ascites, Postural tremor, Action tremor, Cryptorchidism, Lethargy, Abnormal erythrocy... ORPHA:79239
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Imp... OMIM:605899
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Dehydratio... ORPHA:97282
Nathalie Syndrome
Cataract ORPHA:2663
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Pancytopenia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Osteopenia... OMIM:613658
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Idiopathic Congenital Hypothyroidism
Facial edema, Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Elevated circulating th... ORPHA:95717
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper... ORPHA:140286
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Familial Thyroid Dyshormonogenesis
Facial edema, Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinem... ORPHA:95716
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Osteomyelitis, Glucocortocoid-insensitive prima... ORPHA:171876
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor, Kyphoscoliosis, Bipolar affectiv... ORPHA:3077
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia ORPHA:35710
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Large for gestational age, Tremor, Pancre... ORPHA:263455
Renal Hypoplasia, Bilateral
Chronic kidney disease, Cryptorchidism, Hyperkalemia, Beta 2-microglobulinuria, Anemia, Microscop... ORPHA:97362
Warburg Micro Syndrome 1
Failure to thrive, Overlapping toe, Cryptorchidism, Joint hypermobility, Kyphoscoliosis, Short st... OMIM:600118
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Clinodactyly, Postnatal growth retardation,... ORPHA:2169
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Small hand, Resting tremor, Bradykinesia, Bruxism, Obesity, Tremor, Kyphoscoli... OMIM:300055
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Long hallux, Cryptorchidism, Decreased growth hormone responses to growth horm... OMIM:101800
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia, Obsessive-compulsive trait, Cryptorchidism, Attention deficit hyperactivity disor... OMIM:619908
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Osteopenia, Rickets, Osteomalacia, Joint stiffness, Avascular necrosis of t... ORPHA:1901
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insu... ORPHA:324575
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, P... ORPHA:95409
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Hyperactivity, Uraciluria, Gr... OMIM:274270
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Slender long bone, Abnormal blood phosphate concentration, De... OMIM:619795
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria OMIM:619813
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Joint hypermobility, Osteopenia, Elevated circulating creatine kinase concentration, Kyphoscoliosis ORPHA:300179
Ck Syndrome
Slender build, Lumbar hyperlordosis, Joint hypermobility, Kyphoscoliosis, Aggressive behavior, Lo... ORPHA:251383
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hy... ORPHA:699
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa... OMIM:136300
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... OMIM:612847
Metaphyseal Chondrodysplasia, Spahr Type
Disproportionate short stature, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bo... ORPHA:2501
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... ORPHA:284426
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Rhabdoid Tumor
Renal neoplasm, Hematuria, Weight loss, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Peroxisome Biogenesis Disorder 10B
Cataract, Nephrocalcinosis, Neurogenic bladder OMIM:617370
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Shoulder flexio... ORPHA:536516
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism... ORPHA:89938
Combined Malonic And Methylmalonic Acidemia
Methylmalonic aciduria, Failure to thrive, Dicarboxylic aciduria, Dicarboxylic acidemia, Dystonia... ORPHA:289504
Opsismodysplasia
Renal phosphate wasting, Hypoplasia of the odontoid process, Short neck, Hypophosphatemia, Flat a... OMIM:258480
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Short neck, Brachydactyly, Short stature, Osteoporosis, Short ... OMIM:612463
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Short neck, Abnormal fe... OMIM:255800
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Anorexia, Adrenal insufficiency, Hyperglycinemia, Renal insufficiency, Hyperamylas... OMIM:619386
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly ORPHA:882
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Hypermobility of interphalangeal joints, Broad thumb, Broad hallux, Kyphoscoliosis, Atlantoaxial ... ORPHA:3433
Foxg1 Syndrome
Bruxism, Decreased body weight, Kyphoscoliosis, Severe postnatal growth retardation, Motor stereo... ORPHA:561854
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hy... ORPHA:1667
King-Denborough Syndrome
Failure to thrive, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis... OMIM:619542
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Growth delay, Hypocalcemic tetany, Decreased testicular size, Postnatal growth... ORPHA:93325
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Abnormal posturing, Generalized dystonia, Multiple joint contractures,... OMIM:128100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aplasia of the 1st metacarpal, Unilateral radial aplasia, Failure to thrive, Partial absence of t... ORPHA:476126
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Short toe, Hand tremor, Patellar hypoplasia, Hypogonadism, Decreased testicular size, Lumbar hype... ORPHA:3041
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Hypoparathyroidism, Decreased circ... OMIM:277900
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Hypocalcemia, Hyper... ORPHA:94093
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia OMIM:301107
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Abnormal posturing, Elevated circulating propionylcarniti... OMIM:614857
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong... OMIM:208085
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abulia, Pseudobulbar paralysis, Localized osteoporosis, Akinetic mutism, Kyphoscoliosis, Aggressi... ORPHA:199354
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Nephrocalcinosis, Male hypogonadism, Type I diabetes mellitus, Chro... OMIM:240300
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Lethargy, Thrombocytopenia, A... ORPHA:27
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirub... ORPHA:90674
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Osteopenia, Nephrocalcinosis, Abnormality of the urinary system, Slender long... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Cryptorchid... OMIM:611209
Hyperekplexia 4
Kyphoscoliosis, Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, Abnorm... OMIM:618011
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... ORPHA:90041
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ... OMIM:612350
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small hand, Xerostomia, Absence of pubertal development, Type II diabetes m... ORPHA:398079
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Corneal opacity OMIM:163200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... ORPHA:53
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Postnatal growth retardation, I... OMIM:619489
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:611783
Allan-Herndon-Dudley Syndrome
Small for gestational age, Decreased body mass index, Failure to thrive in infancy, Abnormality o... ORPHA:59
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Tremor, Increased body weight, Lethargy, Hyp... ORPHA:276608
Osteootohepatoenteric Syndrome
Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Increased serum bile acid... OMIM:619377
Lymphatic Malformation 3
Lymphedema OMIM:613480
Generalized Pustular Psoriasis
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Palmoplantar pustulosis, Hyponatremia, Pustul... ORPHA:247353
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin... ORPHA:29073
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Large for gest... ORPHA:276556
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Nephrocalcinosis, Hypophosphatemic rickets, Arterial calcification OMIM:614473
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Generalized edema, Growth delay, Hypomagnesemia, Ascites, Lymphopenia, Pleural e... ORPHA:90362
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Failure to thrive, Increased hematocrit, Incre... OMIM:263400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, A... ORPHA:276621
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Facial hypotonia, Nephrocalcinosis, Diabetes insipidus, Decreased muscle mass ORPHA:500533
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia, Anemia, Clubbing, Club... OMIM:175500
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Kyphoscoliosis, Thin bony cortex, Cal... OMIM:176920
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Enuresis nocturna, Increased bone mineral density, Wide distal femoral metaphysis,... OMIM:614856
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... OMIM:184252
Glucagonoma
Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... ORPHA:97280
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Abnormal temper tantrums, Hypocalciuria, Clinodactyly of the 2nd finger, Hypophosphat... ORPHA:73223
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short stature, Abnormal metaphysis mor... ORPHA:93304
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-inse... ORPHA:251274
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Intrauterine growth retardation, Increased verte... OMIM:616817
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:177735
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, 3-Methylglutaric a... OMIM:557000
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Joint s... ORPHA:465508
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidis... ORPHA:398069
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of the parathyroid gland, Abnormal form of th... ORPHA:3429
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Generalized osteoporosis, Depression, Limitation of joint mob... OMIM:236200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Knee flexion contracture, Kyphoscoliosis ORPHA:496689
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Lethargy, Small for gestational age, Choreoathetosis OMIM:617065
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Intrauterine growth retardation, Kyphoscoliosis, Joint hypermobilit... ORPHA:391408
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy, Weight loss, Diabetes insipidus, Growth delay ORPHA:30925
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ... OMIM:600384
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K... ORPHA:3101
Juvenile Dermatomyositis
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Arthritis, Calcinosis, E... ORPHA:93672
White Sponge Nevus 2
Edema OMIM:615785
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating cre... OMIM:620366
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent cutaneous absce... ORPHA:47
Severe Canavan Disease
Lethargy, Joint stiffness, Elevated urine N-acetylaspartic acid level, Oral-pharyngeal dysphagia ORPHA:314911
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Mucopolysacchar... OMIM:184095
Neu-Laxova Syndrome
Osteopenia, Rickets, Arthrogryposis multiplex congenita, Osteomalacia, Hypogonadism, Intrauterine... ORPHA:2671
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Slender long bone, Camptodactyly of finger, Elbow flexion co... OMIM:610758
Bangstad Syndrome
Type I diabetes mellitus, Deviation of finger, Increased circulating cortisol level, Abnormality ... ORPHA:1227
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Cerebral calcification, Hyperamylasemia, Bicarbonate-wasting renal tu... OMIM:604278
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, A... ORPHA:29072
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Anasarca, Elevated circulating thyroid-stimulating hormone concentration, Hypoma... OMIM:618183
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Psoriasiform dermatitis, Vesicoureteral reflux... ORPHA:2237
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-de... ORPHA:556037
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Carpenter Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Obesity, ... ORPHA:65759
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonem... OMIM:251100
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:79159
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Wrist flexion contracture, Ankle flexion contracture, Postural tremor, Kyphoscoliosis OMIM:616668
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Edema, Elevated circulating thyroid-s... ORPHA:90673
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Elevated ci... ORPHA:36234
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... OMIM:613090
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperinsulinemia, Hyperlipidemia,... OMIM:248370
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, ... OMIM:236270
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Dysph... ORPHA:198
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria, Growth delay OMIM:238750
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones... OMIM:271530
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Short femoral neck, Decreased body weight, Brachydactyly, Short stature, Reduced bone m... OMIM:618392
Mitochondrial Complex I Deficiency, Nuclear Type 8
Stiff neck, Axial dystonia, Kyphoscoliosis, Dystonia, Dysphagia OMIM:618230
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint hypermobility, Kyphoscoliosis OMIM:236660
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Cryptorchidism, Short neck, Abnormal metacarpal morphology, Abnormality of the kidn... ORPHA:2636
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Sandwich appearance of vertebral bodies, Flared metaphysis, Pathologic fractur... OMIM:259700
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Small for gestational age, Kyphoscoliosis OMIM:300844
19P13.3 Microduplication Syndrome
Precocious puberty, Self-injurious behavior, Clinodactyly, Intrauterine growth retardation, Kypho... ORPHA:447980
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Lethargy, Neutropenia, Thrombocyt... ORPHA:289916
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Nephrocalcinosis, Diabetes insipidus OMIM:611087
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Tremor, Elevated urinary sulfatide level, Lethargy, Hyperpheny... OMIM:233910
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Orthostatic Hypotension 1
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen, Brachydactyly, Nocturia, Elev... OMIM:223360
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Postnatal growth retardation, Cryptorchidism, Hip contracture, Sho... OMIM:193700
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Short stature, Recur... OMIM:268315
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Kyphoscoliosis, Hypogonadotropic hypogonadi... OMIM:612079
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Arthrogryposis multiplex congenita, Camptodactyly of finger, Lumbar h... OMIM:114300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Hyperlipidemia, Calcinosis ORPHA:90154
Pheochromocytoma
Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery stenosis, Proteinuria, Hype... OMIM:171300
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Growth ... ORPHA:223
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria, Short stature, Diabe... OMIM:304800
13Q12.3 Microdeletion Syndrome
Failure to thrive, Upper eyelid edema, Obesity, Intrauterine growth retardation, Cryptorchidism, ... ORPHA:412035
Glutaric Acidemia Type 3
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive... ORPHA:35706
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction, Postural tremor, Genu valgum, Kyphoscoliosis, Scoliosis ORPHA:3115
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati... OMIM:277300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Megacystis, Hypertonic dehydration, Nephrogenic diabetes insipidus... OMIM:125800
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Increased susceptibility to fractures, Tremor, Dystonia, Dysphagia OMIM:304700
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Kyphoscoliosis,... OMIM:618005
Cysticercosis
Cerebral calcification, Abnormal skeletal muscle morphology, Infectious encephalitis, Iridocyclit... ORPHA:1560
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pelvic girdle bone morphology, Failure to thrive, Postnatal growth retardati... OMIM:302960
Leukodystrophy, Hypomyelinating, 17
Flexion contracture, Growth delay, Kyphoscoliosis OMIM:618006
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Weakness of facial muscu... OMIM:220110
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... OMIM:271510
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in... OMIM:261600
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Short stature, Reduced bone mine... OMIM:617974
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Aggressive behavior, Hallux valgus, Hyperactivity, Short stature, Motor stereotypy OMIM:615541
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased body mass index, Decreased HDL cholesterol concentration, Delay... ORPHA:247585
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Slender finger, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Let... OMIM:250940
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Growth delay, Increased circulating prolactin concentration, Decreased circulating T4... ORPHA:99832
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Megaloblastic anemia, Thrombocytopenia, Anorexia, Short stature, Diabetes mellitus ORPHA:49827
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Growth delay, Cryptorchidism, Kyphoscoliosis, Joint hypermobility, Arachnodactyly, Lo... ORPHA:75496
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Low plasma citrull... ORPHA:95427
Whistling Face Syndrome, Recessive Form
Ulnar deviation of finger, Shoulder flexion contracture, Elbow flexion contracture, Knee flexion ... OMIM:277720
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Leukopenia, Stage 5 chronic kidney disease, Hyperglyci... OMIM:251000
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Aminoaciduria, Abnormality of the vertebral column, Failure to thr... OMIM:250620
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hyponatremia, Hypokalemia, Polyhydramnios, Hyperactive ren... OMIM:214700
Infantile Systemic Hyalinosis
Severe short stature, Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphedema... ORPHA:2176
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Hyperamm... OMIM:212140
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Graves disease, Urinary retention, Hypomagnesemia, Obesity, Tremor, Decreas... ORPHA:79102
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Lethargy OMIM:613710
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Flexion contracture, Kyphoscoliosis OMIM:607855
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con... OMIM:251110
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Brachydactyly, Small for gestational age, Edema OMIM:610498
Central Core Disease
Congenital hip dislocation, Abnormal circulating creatine kinase concentration, Multiple joint co... ORPHA:597
Familial Hypoaldosteronism
Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Decreased ci... ORPHA:427
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Short ilia... ORPHA:93316
Nemaline Myopathy 7
Lumbar hyperlordosis, Knee flexion contracture, Kyphoscoliosis OMIM:610687
Familial Renal Glucosuria
Nephropathy, Glycosuria, Moderate postnatal growth retardation, Recurrent urinary tract infection... ORPHA:69076
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Flexion contracture OMIM:617105
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
3-Methylglutaconic Aciduria Type 7
Cataract, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Hypothy... ORPHA:445038
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Osteopenia, Fifth finger distal phalanx clinodactyly, Broad hallux, Long ha... OMIM:615923
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Sideroblastic anemia, Lethargy, Dysphagia OMIM:613561
Lesch-Nyhan Syndrome
Nephrocalcinosis, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Testicular atrophy OMIM:300322
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating crea... OMIM:618120
Spastic Paraplegia 20, Autosomal Recessive
Clinodactyly, Kyphoscoliosis, Hyperextensible hand joints, Dysphagia, Brachydactyly, Camptodactyl... OMIM:275900
Spondyloenchondrodysplasia With Immune Dysregulation
Rheumatoid arthritis, Lymphopenia, Increased intervertebral space, Tubulointerstitial fibrosis, N... OMIM:607944
Dihydropyrimidinase Deficiency
Growth delay, Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thy... OMIM:222748
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy, Choreoathetosis, Paroxysmal dystonia OMIM:606777
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Severe short stature, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Congenital Myopathy 23
Flexion contracture, Kyphoscoliosis OMIM:609285
Isovaleric Acidemia
Hyperglycinuria, Pancytopenia, Leukopenia, Lethargy, Thrombocytopenia, Elevated urinary isovalery... OMIM:243500
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Failure to thrive, Short tibia, Sandal gap, Butterfly vertebrae, Polyhydramnios, Hypo... OMIM:607143
Rothmund-Thomson Syndrome
Malar rash, Skin rash, Calcinosis, Juvenile cataract ORPHA:2909
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Osteopenia, Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal syno... OMIM:615349
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Kyphoscoliosis OMIM:617977
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the ... ORPHA:2114
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Spinal Cord Injury
Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Juvenile cataract, Hypothyroidism, Developmental cataract, Calcinosis ORPHA:221008
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Short toe, Widely spaced toes, Obesity, Cryptorchidism, Joint hypermobil... ORPHA:404443
Scholte Syndrome
Small hand, Patellar hypoplasia, Decreased testicular size, Kyphoscoliosis, Short foot, Micropeni... OMIM:300977
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young, Abnormal circulating biopterin concentration, Hypomagnesemi... ORPHA:1578
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Elevated circulating creatine kinase c... OMIM:300280
Lysinuric Protein Intolerance
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, O... ORPHA:470
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the ki... ORPHA:284227
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature... ORPHA:1159
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Reduced circulati... OMIM:611489
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Kyphoscoliosis, Aggressive behavior, Split hand, Scoliosis, Dysphagia OMIM:614707
Gracile Bone Dysplasia
Failure to thrive, Slender long bone, Flared metaphysis, Ascites, Hypocalcemia, Decreased skull o... OMIM:602361
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,... OMIM:610968
Reynolds Syndrome
Erythema nodosum, Hyperbilirubinemia, Calcinosis, Calcinosis cutis OMIM:613471
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Joubert Syndrome 18
Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Joint hypermobility, Kyphoscol... OMIM:614815
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Hip dislocation, Shallow acetabular fossae, Genu valgum, Broad femoral head, Severe p... OMIM:620639
Lymphatic Malformation 10
Lymphedema OMIM:619369
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration OMIM:203750
Cholera
Acute kidney injury, Aspiration pneumonia, Abnormal blood ion concentration, Hypocalcemia, Hypoka... ORPHA:173
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... ORPHA:340
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydro... ORPHA:90794
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Anorexia, Leukocytosis, Hyperammonemia, Hyperuricemia, Oral aversion, Agitation... ORPHA:134
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:620126
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Kyphoscoliosis OMIM:619099
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Dystonia, Abnormal erythrocyte morphology, Choreoathetosis ORPHA:71277
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Iron deficiency anemia, Weight loss, Osteoporosis, Growth delay, Edema ORPHA:309031
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Apathy, Anorexia, Lacticaciduria, Dystonia, Elevated plasma citrulli... ORPHA:3008
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Lethargy, Hyperalaninemia, Dystonia, Increased serum pyruvate,... OMIM:312170
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:620125
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large ... OMIM:615398
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Increased c... ORPHA:139507
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Abnormal odontoid process morphology, Genu valgum, Delayed pubic bone ossif... ORPHA:2976
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Isolated Atp Synthase Deficiency
Renal hypoplasia, Hypogonadism, Hyperammonemia, 3-Methylglutaconic aciduria, Lethargy, Hypothyroi... ORPHA:254913
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Cataract, Increased variability in muscle fiber diame... OMIM:301075
Combined Oxidative Phosphorylation Deficiency 32
Horseshoe kidney, Tremor, Kyphoscoliosis, Joint contracture, Dystonia, Dysphagia, Choreoathetosis OMIM:617664
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Myopathy, Myofibrillar, 2
Cataract, Muscular dystrophy, Skeletal muscle autophagosome accumulation, Quadriceps muscle weakn... OMIM:608810
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Short neck,... ORPHA:226307
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hammertoe, Action tremor, Kyphoscoliosis OMIM:180800
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Failu... OMIM:251120
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,... OMIM:229600
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Growth delay, Leukopenia, Intrauterine growth retardation, Tremor, 3-Methylglutaconic... OMIM:616271
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Cataract, Mesangial hypercellularity, Enterocolitis, Nephroti... OMIM:620425
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Raine Syndrome
Hydroureter, Long hallux, Neonatal death, Hydronephrosis, Bowing of the long bones, Short neck, H... OMIM:259775
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Splenomegaly, Hypoca... ORPHA:667
Timothy Syndrome
Pneumonia, Hypothyroidism, Hypocalcemia OMIM:601005
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape... OMIM:300232
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Contractural Arachnodactyly, Congenital
Osteopenia, Ulnar deviation of finger, Congenital kyphoscoliosis, Elbow flexion contracture, Limi... OMIM:121050
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, S... ORPHA:2410
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Rothmund-Thomson Syndrome Type 2
Developmental cataract, Calcinosis, Juvenile cataract ORPHA:221016
Developmental And Epileptic Encephalopathy 92
Lethargy, Dystonia OMIM:617829
Williams Syndrome
Synostosis of joints, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, P... ORPHA:904
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Postnatal growth retardation, Dysplasia of the femoral head, Arachnodac... ORPHA:536467
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Abnormal bone ossification, Diaphy... ORPHA:175
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dyston... OMIM:607371
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... OMIM:184100
Mucolipidosis Type Iii Alpha/Beta
Oligosacchariduria, Keratan sulfate excretion in urine, Postnatal growth retardation, Joint stiff... ORPHA:423461
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Dystonia OMIM:618224
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Clinodactyly, Motor stereotypy, Self-injurious behavior, Symphalangism of the thumb, Short toe, A... OMIM:620494
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Kyphoscoliosis, Ovoid thoracol... OMIM:252930
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Postnatal gro... ORPHA:254531
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Generalized dystonia, Increased susceptibility to fractures, Opisthotonus, At... ORPHA:216866
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati... ORPHA:42
Familial Cold Urticaria
Polydipsia, Arthritis, Dehydration ORPHA:47045
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Lethargy, Weight loss, Thrombocytopenia, Anorexia, Growth delay ORPHA:79242
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Failure to thrive, Lethargy, Dystonia, Dysphagia OMIM:618226
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria, Edema, Anorexia, Leukopenia, Leukocytosis, Hyperammonemia, ... ORPHA:20
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Ascites, Hepatosplenom... ORPHA:275761
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Neuromuscular dysphagia, Bilateral cryptorchidism, Bradykinesia, ... ORPHA:466722
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Decreased response to growth hormone stimulation test, Recurrent o... ORPHA:363528
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Mildly elevated creatine kinase, Kyphoscoliosis ORPHA:370980
Chst3-Related Skeletal Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... ORPHA:263463
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, F... OMIM:605711
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Edema, Abnormal circulating protein concentration, Weight loss, Abnormal circula... ORPHA:103910
Acrootoocular Syndrome
Failure to thrive, Short toe, Short finger, Decreased response to growth hormone stimulation test... ORPHA:2980
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... ORPHA:90795
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
X-Linked Immunoneurologic Disorder
Cataract, Functional abnormality of the bladder, Myopathy ORPHA:2571
Meningococcal Meningitis
Stiff neck, Renal insufficiency, Lethargy, Increased circulating procalcitonin concentration, Ano... ORPHA:33475
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Cata... OMIM:203780
Spinocerebellar Ataxia, Autosomal Recessive 20
Oligosacchariduria, Clinodactyly, Splenomegaly, Kyphoscoliosis, Brachydactyly, Camptodactyly, Sco... OMIM:616354
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Hypogonadism, Decreased testicular size, Postnatal growth retardat... OMIM:612513
Rabson-Mendenhall Syndrome
Precocious puberty, Nephrocalcinosis, Long penis, Insulin-resistant diabetes mellitus, Fasting hy... ORPHA:769
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Monosomy 18P
Generalized dystonia, Lymphedema, Kyphoscoliosis, Short neck, Hypothyroidism, Brachydactyly, Shor... ORPHA:1598
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Resting tremor, Failure to thrive, Goiter, Tremor, Elevated circulating creatine kina... ORPHA:254892
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Ectopic calcification, Cortical nephrocalcinosis, Adrenal calcification, Medial... ORPHA:51608
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Growth delay, Failure to... ORPHA:96170
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Cataract 47
Cataract, Microcornea OMIM:612018
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Rickets OMIM:219900
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Intrauterine growth retardation, Kyphoscoliosis, Micropenis, Rocker bott... OMIM:610756
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Failure to thrive, Dehydration OMIM:616069
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Thoracolumbar kyphosis, Epiphyseal dysplasia, Disproportionate short stature, Hypo... OMIM:617425
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Growth delay, Goiter OMIM:274400
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Lethargy, Focal dystonia... ORPHA:101150
Osteopetrosis, Autosomal Recessive 5
Growth delay, Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Flared met... OMIM:259720
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Severe short stature, Hyperextensibility of the finger joints, Femoral... OMIM:231070
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... ORPHA:99885
Arthrogryposis Multiplex Congenita 5
Acanthocytosis, Short neck, Poikilocytosis, Hip dislocation, Hand tremor, Dystonia, Flexion contr... OMIM:618947
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o... OMIM:618476
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased testicular size, Kyphoscoliosis, Hypogonadotropic hypogonadi... OMIM:604168
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Dystonia, Increased serum pyruvate OMIM:246900
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc... OMIM:602522
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive, Elbow contracture OMIM:611523
Staphylococcal Necrotizing Pneumonia
Leukopenia, Pleural effusion, Leukocytosis, Increased circulating procalcitonin concentration, Le... ORPHA:36238
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia ORPHA:79476
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased uri... ORPHA:31826
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Ulcerative colitis, Stage 5... ORPHA:79259
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Neutropenia, Short foot,... ORPHA:93357
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Edema, Elevated circulating thyroid-sti... ORPHA:226316
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
X-Linked Dominant Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Hydronephrosis, Anterior ri... ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Muscular dystrophy, Elevated circulating creatine kinase concentration, Limb-girdle mus... OMIM:615352
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Huntington Disease-Like 1
Depression, Abnormal posturing, Abnormal shoulder morphology, Weight loss, Bradykinesia, Restless... ORPHA:157941
Shigellosis
Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis, Failure to thrive in infancy,... ORPHA:810
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Autosomal Agammaglobulinemia
Failure to thrive, Osteomyelitis, Neutropenia, Arthritis, Dehydration ORPHA:33110
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Exe... ORPHA:26793
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight,... OMIM:608747
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D... OMIM:605911
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Intrauterine growth retardation, Hypoplasia of the femoral... OMIM:617396
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Pyruvate Dehydrogenase Deficiency
Osteolytic defects of the middle phalanx of the 4th toe, Intrauterine growth retardation, Tremor,... ORPHA:765
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Rhabdomyolysis, Elevated circulat... ORPHA:466650
Coffin-Siris Syndrome 6
Clinodactyly, Kyphoscoliosis, Attention deficit hyperactivity disorder, Brachydactyly, Short stat... OMIM:617808
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Primary gonadal insufficiency, Decreased circulating progesterone OMIM:603896
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Mevalonic Aciduria
Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le... OMIM:610377
Rahman Syndrome
Camptodactyly, Cryptorchidism, Kyphoscoliosis OMIM:617537
Joint Laxity, Short Stature, And Myopia
Joint hypermobility, Cervical kyphosis, Short stature, Kyphoscoliosis OMIM:617662
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hyperprolinemia, Lethargy, Hyperalaninemia, Wide anterior fontanel OMIM:619064
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Lethargy, Short stature ORPHA:2089
Osteogenesis Imperfecta
Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification... ORPHA:666
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Lethargy, Hyperalanin... ORPHA:927
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Hip dislocation, Sandal gap, Shoulder dislocation, Equinus calcaneus, Cryptorchidism,... ORPHA:536532
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Decreased body weight, Short... OMIM:271640
Harlequin Ichthyosis
Self-injurious behavior, Limitation of joint mobility, Hand polydactyly, Foot polydactyly, Dehydr... ORPHA:457
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Williams-Beuren Syndrome
Obsessive-compulsive trait, Radioulnar synostosis, Osteopenia, Failure to thrive in infancy, Obes... OMIM:194050
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Kyphoscoliosis, 2-3 toe syndactyly, Motor stereotypy, Aggressive behavior, Hyperacti... ORPHA:391307
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Split hand, Hammertoe, Kyphoscoliosis ORPHA:99950
Digeorge Syndrome
Intervertebral disk degeneration, Ovarian cyst, Renal dysplasia, Cholelithiasis, Parathyroid hypo... OMIM:188400
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Hip dislocation, Thin metacarpal cortices, Kyphoscoliosis, Joint hypermobility, Bo... OMIM:616507
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Monosomy 13Q34
Postaxial foot polydactyly, Growth delay, Obesity, Fetal pyelectasis, Postaxial hand polydactyly,... ORPHA:96168
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Premature epimetaphyseal... ORPHA:85435
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Clinodactyly, Hypogonadism, Postnatal growth reta... ORPHA:73272
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Patellar hypoplasia, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohypo... ORPHA:464288
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Hypocalcemia, Hyponatremia, D... ORPHA:544482
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria OMIM:615026
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Obesity, Abnormal toe morphology, Kyphoscoliosis ORPHA:459033
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Depression, Increased circulating cortisol level, Decreased circulating ACTH concentr... OMIM:219080
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Joint contracture, Kyphoscoliosis OMIM:260600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hydronephrosis, Thyroid lymphangiectasia, Micropenis, Hypoproteinemia OMIM:235255
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Equinus calcaneus, Hypocalcemia, Lethargy, Hypoparathyroidism ORPHA:746
Sarcoidosis
Weight loss, Tubulointerstitial nephritis, Renal insufficiency, Pleural effusion, Enlargement of ... ORPHA:797
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Cryptorchidism, Crowded carpal bones, Short neck, Dislocated radial ... OMIM:102500
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Cataract, Increase... OMIM:230400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Growth delay, Renal agenesis, HbH hemoglobin, Clinodactyly, Radial deviation of finger, Postnatal... OMIM:301040
Glycerol Kinase Deficiency
Growth delay, Increased urinary glycerol, Pathologic fracture, Adrenal insufficiency, Adrenocorti... OMIM:307030
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Enteric Anendocrinosis
Type I diabetes mellitus, Dehydration ORPHA:83620
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Generalized dystonia, Laryngeal dystonia, Eunuchoid ha... ORPHA:98805
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Failu... ORPHA:79282
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pancr... OMIM:301111
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Kyphoscoliosis, Scoliosis, Dysphagia, Edema, Clubbing of fingers OMIM:619574
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Broad thumb, Clinodactyly, Cryptorchidism, Partial duplication of... OMIM:616331
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Hepatosplenomegaly, Cryptorchidism, Hip contracture, Thoracolumbar ... OMIM:619503
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Acute hyperammonemi... OMIM:210200
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Pancytopenia, Distal renal tubular acidosis, Oligohydramnios, Renal tubular ac... ORPHA:2785
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Postnatal gro... ORPHA:96184
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,... ORPHA:230
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Depression, Increased cir... OMIM:610489
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Renal dysplasia, Tapered toe, Elevated circulating creatinine concen... OMIM:608836
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperornithinemia, Hyperammonemia, Lethargy, Homocitrullinuria OMIM:238970
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Elevated circulatin... OMIM:614866
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Anorexia, Elevated circulating CCL18 ... ORPHA:77259
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hyperammonemia, Hyperglutamatemia, Aggressive behavior, Hyperglutaminemia, Low... OMIM:237310
Axial Osteomalacia
Renal cyst, Osteomalacia, Increased bone mineral density, Elevated circulating creatine kinase co... OMIM:109130
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... ORPHA:79404
Methionine Malabsorption Syndrome
Positive ferric chloride test, Blue irides, White hair OMIM:250900
Microphthalmia, Syndromic 13
Short stature, Kyphoscoliosis OMIM:300915
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys ORPHA:3411
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Failure to thrive, Hyperammonemia, Growth delay, Dehydration OMIM:615453
Leprechaunism
Nephrocalcinosis, Long penis, Central hypothyroidism, Skeletal muscle atrophy, Hyperaldosteronism... ORPHA:508
Larsen-Like Syndrome
Radial deviation of the 4th finger, Joint hypermobility, Kyphoscoliosis, Bipartite calcaneus, Sho... OMIM:608545
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Renal duplication, Kyphoscoliosis, Polyhydramnios, Short lower limbs, ... ORPHA:96190
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Hyperostosis, Splenomegaly, Polycystic ... ORPHA:2969
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoargininemia, Cerebral ede... OMIM:237300
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Let... OMIM:277410
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Growth delay, Anorexia OMIM:500007
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Increased serum pyruvate OMIM:618225
Pseudoxanthoma Elasticum
Nephrocalcinosis, Cerebral calcification, Skin rash, Hypothyroidism, Acne ORPHA:758
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Skeletal muscle atrophy, Erysipelas, Elevated circulating creatine kinase concentration... OMIM:615704
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hydronephrosis, Abnormal renal morphology, Micropenis, Hypoproteinemia ORPHA:1655
Citrullinemia Type I
Failure to thrive, Hyperammonemia, Lethargy, Torticollis, Elevated plasma citrulline ORPHA:247525
Spinocerebellar Ataxia, Autosomal Recessive 31
Bruxism, Tremor, Self-mutilation, Lumbar kyphoscoliosis, Dysphagia, Clinodactyly of the 5th finge... OMIM:619422
De Barsy Syndrome
Osteopenia, Congenital hip dislocation, Failure to thrive, Postnatal growth retardation, Intraute... ORPHA:2962
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Cryptorchidism, Kyphoscoliosis, Short neck, Thin bony cortex, Long fingers, Short st... OMIM:309583
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar... OMIM:171400
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Osteopenia, Splenomegaly, Anemia, Recurrent fractures OMIM:618107
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Skin rash, Orchitis, Proteinuria, Peritonitis, Pancrea... ORPHA:342
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Cryptorchidism, Abnormality of the kidney, Polyhydramnios, Scoliosis, Reduced bo... ORPHA:466926
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Kyphoscoliosis, Short stature OMIM:255710
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Failure to thrive, Abnormal circulating creatin... OMIM:615838
Crisponi/Cold-Induced Sweating Syndrome 1
Radial deviation of finger, Elbow flexion contracture, Limited elbow extension, Kyphoscoliosis, O... OMIM:272430
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Distal Deletion 12Q
Overlapping toe, Obsessive-compulsive trait, Short neck, Micropenis, Ectopic kidney, Polycystic k... ORPHA:96149
Warburg Micro Syndrome 3
Decreased testicular size, Postnatal growth retardation, Kyphoscoliosis, Micropenis, Clinodactyly... OMIM:614222
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Depression, Increased circulating cortisol level, Pigmented micronodular adrenocortic... OMIM:610475
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Monosomy 18Q
Secondary growth hormone deficiency, Growth delay, Failure to thrive, Bilateral cryptorchidism, S... ORPHA:1600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Split hand, Hammertoe, Kyphoscoliosis OMIM:118220
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Double Outlet Right Ventricle
Failure to thrive, Aplasia/Hypoplasia of the thymus, Hypocalcemia, Abnormality of cartilage of ex... ORPHA:3426
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Cataract, Abnormality of the urinary system, Skeletal... ORPHA:101006
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Abnormali... OMIM:200980
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Kyphoscoliosis OMIM:607831
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadi... ORPHA:848
Ogden Syndrome
Broad hallux, Postnatal growth retardation, Cryptorchidism, Lethargy, Torticollis, Scoliosis ORPHA:276432
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Short neck... OMIM:143095
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Microsporidiosis
Thyroiditis, Nephritis, Abnormality of the parathyroid gland, Urethritis, Abnormality of the sple... ORPHA:2552
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia,... ORPHA:231580
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Charcot-Marie-Tooth Disease, Type 4B2
Split hand, Hammertoe, Kyphoscoliosis OMIM:604563
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Galactokinase Deficiency
Cataract, Nuclear cataract, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol... ORPHA:79237
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Hemochromatosis, Type 4
Cataract, Elevated transferrin saturation, Diabetes mellitus, Increased circulating ferritin conc... OMIM:606069
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the ha... OMIM:184253
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Anorexia, Elevated circulating creatinine... ORPHA:99826
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98793
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression, Back pain ORPHA:238624
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98754
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le... ORPHA:231625
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di... OMIM:253200
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Peripheral edema, Pleural effu... ORPHA:79126
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Kyphoscoliosis OMIM:616684
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Seckel Syndrome 8
Short stature, Ectopic kidney, Kyphoscoliosis OMIM:615807
Ullrich Congenital Muscular Dystrophy 2
Joint hypermobility, Flexion contracture, Kyphoscoliosis OMIM:616470
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... ORPHA:79284
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Rocker bottom foot, Annular pancreas, Clinodactyly, Intrauterine growth retardation, ... ORPHA:488642
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis OMIM:300886
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cir... OMIM:609015
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Slender finger, Cervical kyphosis, Functional abnormality of the bladde... ORPHA:2953
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Bic... OMIM:219090
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Renal insufficienc... OMIM:263200
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Postnatal growth retardation, Genu valgum, Joint hypermobility, Thoracic scoliosis, K... ORPHA:300570
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatos... ORPHA:93352
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Cryptorchidism, Decreased body weig... OMIM:602535
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Recurrent urinary tract infections, Hypocalcemic tetany, Aplasi... ORPHA:83471
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia,... OMIM:275350
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Disproportionate ... ORPHA:94068
Sotos Syndrome
Abnormal vertebral morphology, Cryptorchidism, Hip contracture, Abnormality of the kidney, Acute ... ORPHA:821
Microcephalic osteodysplastic primordial dwarfism, type III
Severe short stature, Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital fem... OMIM:210730
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Hypertrophic Neuropathy Of Dejerine-Sottas
Split hand, Scoliosis, Hammertoe, Kyphoscoliosis OMIM:145900
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Congenital contracture, Arthrogryposis multiplex congenita, Camptodact... ORPHA:115
Necrotizing Enterocolitis
Ascites, Leukocytosis, Hyponatremia, Lethargy, Neutropenia, Thrombocytopenia, Small for gestation... ORPHA:391673
Dermatitis, Atopic
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti... OMIM:603165
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Split hand, Hammertoe, Kyphoscoliosis OMIM:118200
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Fail... OMIM:210210
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Medium chain dicarboxylic aciduri... OMIM:201450
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration, Neonatal death OMIM:602199
Proximal Myotonic Myopathy
Cataract ORPHA:606
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Resting tremor, Bradykinesia, Dysphagia, Urinary incontinence, Dystonia, Titu... ORPHA:225147
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Kyphoscoliosis, Aggressive behavior, Hyposegmentation of neutrophil nucl... OMIM:620075
Free Sialic Acid Storage Disease
Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Hydrops fetalis, Nephrotic synd... ORPHA:834
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... OMIM:273250
Glucose/Galactose Malabsorption
Failure to thrive, Glycosuria, Hypertonic dehydration OMIM:606824
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Inappropriate behavior, Tremor, Kyphoscoliosis, Focal dystonia, Bradykinesia, Trem... ORPHA:99750
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... OMIM:259770
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Inc... ORPHA:189427
Congenital Myasthenic Syndrome
Spinal rigidity, Congenital hip dislocation, Kyphoscoliosis, Joint hypermobility, Dysphagia, Poly... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal rigidity, Congenital hip dislocation, Kyphoscoliosis, Joint hypermobility, Dysphagia, Poly... ORPHA:98914
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Cardiac-Valvular Ehlers-Danlos Syndrome
Sandal gap, Recurrent shoulder dislocation, Genu valgum, Joint hypermobility, Kyphoscoliosis, Hal... ORPHA:230851
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Adrenocortical cytomegaly, Renal cortical cysts, Vesicoureteral reflux, Diastas... OMIM:130650
Tetrasomy 15Q26
Horseshoe kidney, Intrauterine growth retardation, Kyphoscoliosis, Hydronephrosis, Arachnodactyly... OMIM:614846
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Lethar... OMIM:614922
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Short neck, Acute myeloid leuke... ORPHA:124
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cataract, Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Oligosacchariduria, Clinodactyly, Hepatosplenomegaly, Kyphoscoliosis, Brachydactyly, Camptodactyl... ORPHA:397709
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Cortical irregularity, Anterior concavity of thoracic vertebrae, K... OMIM:249420
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... ORPHA:314478
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Congenital Tufting Enteropathy
Weight loss, Arthritis, Failure to thrive, Dehydration ORPHA:92050
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Multifocal Atrial Tachycardia
Lethargy, Hypothyroidism, Cryptorchidism ORPHA:3282
Alobar Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... ORPHA:93926
Lobar Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... ORPHA:93924
Semilobar Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... ORPHA:220386
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Lethargy, Flexion contracture, Scoliosis, Ethylmalonic aciduria OMIM:201470
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Obesity And Hypopigmentation
Red hair OMIM:620195
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Short stature, Ectopic kidney, Dehydration ORPHA:634
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Recurrent fractures, Cryptorchidism, Kyphoscoliosis... ORPHA:3063
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... ORPHA:79477
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Action tremor, Opisthotonus, Craniofacial dystonia, Lethargy, Dystonia, Dysph... OMIM:607483
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal thumb morphology, Contractures of the large joints, Kyphoscoliosis ORPHA:324410
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Polycythemia, Abnormal pancreas morphology, Adrenocortical cytomegal... ORPHA:116
Birt-Hogg-Dubé Syndrome
Medullary thyroid carcinoma, Renal cell carcinoma, Parathyroid adenoma ORPHA:122
Maternal Uniparental Disomy Of Chromosome 2
Elevated amniotic fluid alpha-fetoprotein, Contractures of the large joints, Bilateral cryptorchi... ORPHA:96179
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Pancytopenia, Pleural effusion, Splenomegaly, Hypercalciuria, Weight lo... OMIM:181000
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Osteopenia, Streak ovary, Arachnodactyly, Delayed puberty, Short statu... ORPHA:243
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Megacystis, Primary adrenal insufficiency, ... ORPHA:977
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Hypogonadism, Cryptorchidi... OMIM:268400
Lamellar Ichthyosis
Short stature, Renal insufficiency, Dehydration ORPHA:313
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Hammertoe, Kyphoscoliosis OMIM:601455
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Postnatal growth retardation, Hepatosplenom... ORPHA:96334
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... OMIM:218700
Kagami-Ogata Syndrome
Limitation of joint mobility, Postnatal growth retardation, Large for gestational age, Kyphoscoli... ORPHA:254519
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Ascites, Intrauterine growth retardation,... OMIM:617156
22Q11.2 Deletion Syndrome
Acne, Cataract, Renal hypoplasia, Vesicoureteral reflux, Hypocalcemia, Corneal neovascularization... ORPHA:567
Kagami-Ogata Syndrome
Splenomegaly, Kyphoscoliosis, Long fingers, Polyhydramnios, Flexion contracture, Coxa valga OMIM:608149
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Hyperornithinemia, Subcapsular cataract ORPHA:414
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation, Kyphoscoliosis OMIM:618339
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Hennekam Syndrome
Erysipelas, Camptodactyly of finger, Horseshoe kidney, Hypocalcemia, Ectopic kidney ORPHA:2136
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Failure to thrive, Ureteral stenosis, Flare... OMIM:309350
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney... OMIM:614376
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Streak ovary, Overlapping fingers, Radioulnar synosto... ORPHA:798
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... OMIM:255120
Dengue Fever
Ascites, Leukopenia, Lethargy, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... ORPHA:3455
Alternating Hemiplegia Of Childhood
Failure to thrive, Oral-pharyngeal dysphagia, Tremor, Impulsivity, Aggressive behavior, Anorexia,... ORPHA:2131
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Anorexia, Elevated circulating C-reactive protein concentration, Tubulointerstitial ... ORPHA:91500
Velocardiofacial Syndrome
Hypoparathyroidism, Posterior embryotoxon, Hypocalcemia OMIM:192430
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Genu valgum, Reduced bone mi... ORPHA:582
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Agitation, Impulsivity, Lethargy, Hyperactivity, Thrombocytopenia, Exaggerated s... OMIM:620423
Liver Disease, Severe Congenital
Recurrent otitis media, Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Eczemato... OMIM:619991
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:600649
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... OMIM:201475
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidne... OMIM:120330
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Ca... OMIM:308940
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Charcot-Marie-Tooth Disease, Type 4A
Hammertoe, Kyphoscoliosis OMIM:214400
Autosomal Recessive Spastic Paraplegia Type 23
Horseshoe kidney, Short stature, Hip dislocation, Kyphoscoliosis ORPHA:101003
Citrullinemia, Classic
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Lethargy, Hypoargininemia, ... OMIM:215700
Restrictive Dermopathy 1
Rocker bottom foot, Overtubulated long bones, Ankylosis, Intrauterine growth retardation, Oligohy... OMIM:275210
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptor... ORPHA:163979
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Slender build, Cryptorch... OMIM:300967
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Joint stiffness, Hyperlipopro... ORPHA:1979
Cog1-Cdg
Osteopenia, Rhizomelia, Failure to thrive, Postnatal growth retardation, Hepatosplenomegaly, Butt... ORPHA:263508
Autoimmune Polyendocrinopathy Type 1
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... ORPHA:3453
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Genu valgum, Short neck, Spina bifida occulta, Hypoplasia of penis, Reduced bone mi... ORPHA:2983
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Trisomy 8P
Nephrocalcinosis, Astigmatism, Multiple joint contractures, Hydronephrosis, Heterochromia iridis,... ORPHA:264450
Isolated Complex I Deficiency
Proximal tubulopathy, Failure to thrive, Intrauterine growth retardation, Lethargy, Increased ser... ORPHA:2609
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, I... ORPHA:96191
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Decreased pineal volume, Enterocolitis, Nephrotic s... OMIM:301108
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Failure to thrive, Slender long bones with narrow diaphys... ORPHA:2834
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi... OMIM:610755
Vici Syndrome
Abnormal posturing, Failure to thrive, Lymphopenia, Leukopenia, Postnatal growth retardation, Dec... OMIM:242840
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Transient hyperlipidemia, Renal tubular acidosis ORPHA:156
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Lethargy, Tongue thrusting, Limb tremor, Tortico... OMIM:608643
Floating-Harbor Syndrome
Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Short neck, Broad fingertip, Disloc... ORPHA:2044
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral wedging, Ovarian carcinoma, Kyphoscoliosis, Polydact... OMIM:109400
Episodic Ataxia Type 1
Scoliosis, Choreoathetosis, Kyphoscoliosis ORPHA:37612
Parkinson-Dementia Syndrome
Tremor, Kyphoscoliosis OMIM:260540
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Type I diabetes mellitus, Elevated circulating ribi... ORPHA:488618
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis OMIM:260400
Charge Syndrome
Lymphopenia, Postnatal growth retardation, Cryptorchidism, Micropenis, Absent radius, Hypoparathy... OMIM:214800
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Hyperammonemia, Lethargy, 3-hyd... OMIM:253270
Camurati-Engelmann Disease
Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Me... ORPHA:1328
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Increased serum pyruvate, Limb dystonia OMIM:604377
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Decreased urinary lysyl-pyridinoline-hydroxylysy... OMIM:225400
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Loeys-Dietz Syndrome 5
Bilateral coxa valga, Cervical spine instability, Failure to thrive in infancy, Spondylolisthesis... OMIM:615582
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Kyphoscoliosis, Short stature, Camptodactyly, Arthrogryposis multi... OMIM:601701
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Cryptorchidism, Abnormal spleen morphology, Aplasia/... ORPHA:2470
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Leth... OMIM:311250
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Congenital hip dislocation, Failure to thrive, Elbow flexion contractu... ORPHA:2020
Argininosuccinic Aciduria
Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos... OMIM:207900
Typhoid
Lethargy, Splenomegaly, Tremor ORPHA:99745
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i... OMIM:210720
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Incr... OMIM:154230
Evans Syndrome
Lethargy, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Increased ... OMIM:174800
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Abnormality of the vertebral column, Abnormality of the ki... ORPHA:53721
Pseudo-Torch Syndrome 2
Ascites, Pleural effusion, Lethargy, Abnormal renal corticomedullary differentiation, Thrombocyto... OMIM:617397
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Dend Syndrome
Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Dehydration ORPHA:79134
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancre... ORPHA:93111
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Hyperglycinemia OMIM:614299
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico... OMIM:615300
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Reduced C-peptide level, Pancreatic hypoplasia, Pancreatic apl... OMIM:260370
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct... OMIM:601346
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Anauxetic Dysplasia 3
Platyspondyly, Severe short stature, Broad middle phalanx of finger, Metaphyseal cupping, Short m... OMIM:618853
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital hip dislocation, Atlantoaxial instability, Congenital kyphoscoliosis, Kyph... ORPHA:536545
Aniridia 3
Cataract, Aniridia OMIM:617142
Nail-Patella Syndrome
Thickened glomerular basement membrane, Abnormal tibia morphology, Contracture of the distal inte... ORPHA:2614
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Osteogenesis Imperfecta, Type Xx
Disproportionate short-limb short stature, Intrauterine growth retardation, Kyphoscoliosis, Multi... OMIM:618644
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Floating-Harbor Syndrome
Broad thumb, Cryptorchidism, Short neck, Broad fingertip, Dislocated radial head, Hypospadias, Co... OMIM:136140
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Robinow Syndrome
Webbed penis, Short distal phalanx of finger, Multicystic kidney dysplasia, Decreased serum testo... ORPHA:97360
Scrub Typhus
Lethargy, Renal insufficiency, Splenomegaly, Tremor ORPHA:83317
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Hydranencephaly
Atrophic pituitary gland, Stiff neck, Postnatal growth retardation, Intrauterine growth retardati... ORPHA:2177
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... ORPHA:159
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbladder, Bil... OMIM:615710
Werner Syndrome
Hypogonadism, Reduced bone mineral density, Low back pain, Short stature, Hypertriglyceridemia, O... OMIM:277700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Pancytopenia, Aggressive behavior, Lethargy, Cerebral edema, Dystonia OMIM:618321
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Camptodactyly, Micropenis, ... OMIM:268310
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Dicarboxylic aciduria OMIM:212138
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Kyphoscoliosis, Short neck, Growth delay, Tapered finger OMIM:615803
Leopard Syndrome 1
Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Kyphoscoliosis... OMIM:151100
Noonan Syndrome 1
Chylothorax, Juvenile myelomonocytic leukemia, Clinodactyly, Lymphedema, Hypogonadism, Failure to... OMIM:163950
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Lymphedema-Distichiasis Syndrome
Cataract, Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tub... ORPHA:33001
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Elevated circ... OMIM:137920
Cirrhosis, Familial
Ascites, Increased level of L-fucose in urine, Lethargy, Increased level of propylene glycol in b... OMIM:215600
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Xp21 Deletion Syndrome
Growth delay, Finger clinodactyly, Adrenal insufficiency, Primary adrenal insufficiency, Elevated... ORPHA:261476
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Synostosis involving the 1st m... ORPHA:466791
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive... OMIM:617052
Sandifer Syndrome
Anemia, Abnormal posturing, Decreased cervical spine mobility, Torticollis ORPHA:71272
Autosomal Recessive Spastic Paraplegia Type 9B
Growth delay, Urinary retention, Postural tremor, Kyphoscoliosis, Short stature, Pollakisuria ORPHA:447760
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Hyperparathyroidism, Fractured rib, Osteopenia, Metaphyseal spurs, Rec... OMIM:618188
Susac Syndrome
Lethargy, Apathy ORPHA:838
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Labial hypoplasia, Micropenis, Hypospadias, Clitoral hypoplasia OMIM:164745
Amyloidosis, Finnish Type
Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ... OMIM:105120
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Atlantoaxial instability, Large joint hypermobilty, Kyphoscoliosis, Bladder diverticu... OMIM:614557
Encephalitis Lethargica
Urinary incontinence, Lethargy, Tremor, Stiff neck ORPHA:83600
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Exocrine pancreatic insufficiency, Hyperechogenic panc... ORPHA:456312
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Cystathioninemia, Failure to thrive, Hypomethioninemia, Lethargy, Hyperhomocystin... ORPHA:395
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... OMIM:618156
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Cutis Laxa, Autosomal Recessive, Type Iic
Nephrocalcinosis, Bilateral cryptorchidism, Overlapping toe, Oligohydramnios, Knee flexion contra... OMIM:617402
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Disproportionate short-limb short stature, Radial bowing, Slender long... OMIM:610915
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence ... OMIM:161200
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Anorexia, Osteomyelitis, Decrea... OMIM:619381
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,... ORPHA:90793
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy... ORPHA:432
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus OMIM:263210
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Intrarenal abscess, Stiff neck, Abnormality of the adrenal glands... ORPHA:68
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Cataract, Nephrocalcinosis, Abnormality of the... ORPHA:79500
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst OMIM:167800
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Failure to thrive, 3-hydroxydicarboxylic aciduria, Splenomegaly, Lethargy, Hyperala... OMIM:252010
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Short neck, Adren... ORPHA:231720
Fabry Disease
Nephropathy, Depression, Abnormal circulating lipid concentration, Lymphedema, Abnormal femur mor... ORPHA:324
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... OMIM:616843
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Calcification of cartilage, Hemolytic anemia, ... ORPHA:56
Congenital Myopathy 13
Cryptorchidism, Kyphoscoliosis, Short stature, Flexion contracture, Scoliosis OMIM:255995
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n... ORPHA:79318
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Bilateral cryptorchidism, Kyphoscoliosis, Camptodactyly, Joint contracture, Hi... OMIM:617403
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Lethargy, Thrombocytopenia, Dysphagia ORPHA:319218
Cystic Fibrosis
Recurrent pneumonia, Chronic sinusitis, Hypercalciuria, Pancreatitis, Bronchiectasis OMIM:219700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Toe clinodactyly, Fixated interests, Sandal gap, Hypocalcemia, Joint hyp... OMIM:620330
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia OMIM:617914
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Limitation of joint mobility, Slender build, Lumbar hyperlordosis, Large for gestational age, Kyp... ORPHA:457359
Biotinidase Deficiency
Hyperammonemia, Lethargy, Organic aciduria, Splenomegaly OMIM:253260
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Pierson Syndrome
Cataract, Skeletal muscle atrophy, Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chroni... OMIM:609049
Incontinentia Pigmenti
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Kyphoscoliosis, Eosinophil... OMIM:308300
Poland Syndrome
Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Cryptorchidism, Renal hypoplasia/apla... ORPHA:2911
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Genitourinary And/Or Brain Malformation Syndrome
Joint stiffness, Streak ovary, Cryptorchidism, Kyphoscoliosis, Chordee, Attention deficit hyperac... OMIM:618820
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Recurrent fractures, Biconcave flattene... OMIM:166220
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Reduced bone mineral density, Sho... OMIM:112240
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Absent thumb, Slender long bone, Horseshoe kidney, Failure to thrive i... ORPHA:500150
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Pleural effusion, Failure to thrive, Leukocytosis OMIM:620233
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Trichinellosis
Facial edema, Lethargy, Apathy, Periorbital edema, Dysphagia, Edema ORPHA:863
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Postnatal growth retardation, Hyperb... ORPHA:288
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Oroticaciduria, Abnormal circulating citrulline concentration, Hyperornithinem... ORPHA:415
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Relapsing Polychondritis
Cataract, Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insuffi... ORPHA:728
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Blau Syndrome
Cataract, Uveitis, Band keratopathy, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodacty... OMIM:186580
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short distal phalanx of finger, Renal hypoplasia, Failure to thrive, Recurrent urinary tract infe... OMIM:617157
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Pancreatic calcification, Recurrent pancre... ORPHA:676
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp... ORPHA:99413
Mosaic Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp... ORPHA:99228
Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp... ORPHA:99226
Turner Syndrome
Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp... ORPHA:881
Johanson-Blizzard Syndrome
Cryptorchidism, Micropenis, Hypospadias, Ascites, Hypocalcemia, Increased VLDL cholesterol concen... OMIM:243800
Netherton Syndrome
Hypernatremic dehydration, Hypereosinophilia, Failure to thrive, Angioedema OMIM:256500
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Slender finger, Renal hypoplasia, Clinodactyly, Radial deviation of finger, Hypogonadism, Decreas... OMIM:309580
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Psoriasiform dermatitis,... ORPHA:279914
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
You-Hoover-Fong Syndrome
Brachydactyly, Paroxysmal bursts of laughter, Clinodactyly, Kyphoscoliosis OMIM:616954
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Ascites, Intrauterine growth ret... ORPHA:1556
Charcot-Marie-Tooth Disease Type 4B2
Scoliosis, Tremor, Kyphoscoliosis ORPHA:99956
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal tibia morphology, Genu valgum, Bone cyst, Renal hypoplasia/aplasia, Kyphoscoliosis, Abno... ORPHA:363700
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Lethargy, Apathy, Lingual dystonia, Abnormal finger morphology,... ORPHA:306674
Ehlers-Danlos Syndrome, Classic-Like, 1
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Biotinidase Deficiency
Hyperammonemia, Lethargy, Organic aciduria ORPHA:79241
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Marfan Syndrome
Premature osteoarthritis, Limited elbow extension, Spondylolisthesis, Equinus calcaneus, Kyphosco... OMIM:154700
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Prune Belly Syndrome
Decreased testicular size, Urogenital sinus anomaly, Cryptorchidism, Abnormality of the uterus ORPHA:2970
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperi... ORPHA:79474
Intellectual Developmental Disorder, Autosomal Recessive 78
Clinodactyly of the 5th finger, Brachydactyly, Kyphoscoliosis OMIM:620237
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Medulloblastoma
Lethargy, Back pain, Intention tremor ORPHA:616
Primrose Syndrome
Genu valgum, Cryptorchidism, Hip contracture, Tics, Restlessness, Motor stereotypy, Irregular ver... OMIM:259050
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe... OMIM:619534
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Eisenmenger Syndrome
Generalized edema, Abnormal circulating B-type natriuretic peptide concentration, Increased mean ... ORPHA:97214
Histiocytoid Cardiomyopathy
Failure to thrive, Polycystic ovaries, Pulmonary edema, Renal cyst, Lethargy ORPHA:137675
3Q27.3 Microdeletion Syndrome
Arachnodactyly, Kyphoscoliosis ORPHA:397695
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum OMIM:140000
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Glycogen Storage Disease Ib
Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Pancreatic fibrosis, Hepatomegaly, Hep... OMIM:232220
Neurofibromatosis, Type I
Pheochromocytoma, Renal artery stenosis, Genu valgum, Tibial pseudarthrosis, Parathyroid adenoma,... OMIM:162200
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Renal hypoplasia, Microcornea, Band keratopathy, Mu... OMIM:118450
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ... OMIM:241080
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Conju... OMIM:208500
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... ORPHA:3464
Fryns Syndrome
Aganglionic megacolon, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Microphthalmia, Syndromic 9
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Microphthalmia, Syndromic 1
Renal hypoplasia, Joint contracture of the hand, Hydroureter, Growth delay, Clinodactyly, Promine... OMIM:309800
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Supernumerary nipple, Cryptorchidism, Short neck, Short f... OMIM:601803
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Meckel Syndrome
Accessory spleen, Optic atrophy, Cryptorchidism, Congenital hepatic fibrosis, True hermaphroditis... ORPHA:564
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Chronic mucocutaneous candidiasis, Hepatitis, Primary adrena... OMIM:269200
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Precocious puberty, Small scrotum, Cholestatic liver disease, Bifid scrotum, Hyp... OMIM:270400
Pseudotrisomy 13 Syndrome
Micropenis, Bicornuate uterus, Cryptorchidism OMIM:264480
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of... ORPHA:84064
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic... OMIM:618419
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Bicornuate uterus OMIM:300707
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Shawl scrotum, Pancreatic... OMIM:616263
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Cryptorchidism, Labial hypoplasia, Hypospadias, Clitoral hypoplasia OMIM:147791
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Splenopancreatic fusion, Hypoplastic labia majora, Hepatoblastoma, Hy... OMIM:269150
Fryns Syndrome
Ectopic pancreatic tissue, Bifid scrotum, Polysplenia, Cryptorchidism, Aganglionic megacolon, Sha... OMIM:229850
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Meacham Syndrome
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina OMIM:608978
Neurofibroma
Enlargement of parotid gland, Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Basilar Impression, Primary
Short neck, Kyphoscoliosis OMIM:109500
Scalp-Ear-Nipple Syndrome
Cataract, Type I diabetes mellitus, Duplication of renal pelvis, Recurrent urinary tract infectio... ORPHA:2036
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Pagod Syndrome
Optic atrophy, Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnor... ORPHA:991
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia, Abnormality of the uterus ORPHA:59315
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Opitz Gbbb Syndrome
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias ORPHA:2745
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... ORPHA:167
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Abnormality of the liver, Cryptorchidism, A... ORPHA:84
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... OMIM:214500
Alg9-Cdg
Periportal fibrosis, Hepatic cysts, Hypoplastic nipples, Hypoplasia of the ovary, Hepatomegaly, B... ORPHA:79328
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis OMIM:200995
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... OMIM:263650
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Fatigable weakness of skel... ORPHA:284339
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Septate vagina, Absent gallbladder, Uterus didelphys OMIM:617925
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... ORPHA:79430
Currarino Syndrome
Septate vagina, Rectovaginal fistula, Bicornuate uterus OMIM:176450
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Papillary cystadenoma of the epididymis, ... OMIM:193300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hypersplenism, Hepatosplenomegaly, Portal hyp... ORPHA:731
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Hepatic fibrosis, Ambiguous genitalia, Pancreatic fibrosis OMIM:263520
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... ORPHA:322
Fanconi Anemia, Complementation Group D2
Micropenis, Annular pancreas, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227646
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Hypospadias, Cryptorchidism, Annular pancreas OMIM:616975
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, Prominent crus of helix, Hypogonadism, 3-4 toe synd... ORPHA:1449
Ulnar-Mammary Syndrome
Abnormality of the uterus, Breast aplasia, Cryptorchidism, Hypoplastic nipples, Hypoplasia of penis ORPHA:3138
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas ORPHA:97297
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
1P36 Deletion Syndrome
Optic atrophy, Annular pancreas, Abnormal female external genitalia morphology, Hypogonadism, Abn... ORPHA:1606
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias OMIM:236680
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Hypocalcemic seizures OMIM:612301
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Bicornuate uterus, Hypospadias, Annular pancreas OMIM:265380
Meckel Syndrome 14
Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Bicornuate uterus OMIM:154400
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Fraser Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias OMIM:219000
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... ORPHA:2052
Pineoblastoma
Pinealoma, Lethargy ORPHA:251909
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Accessory sp... OMIM:249000
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Degcags Syndrome
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... OMIM:619488
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Jacobsen Syndrome
Annular pancreas, Cryptorchidism ORPHA:2308
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Feingold Syndrome 1
Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... OMIM:107480
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypokalemia, Hypospadias ORPHA:286
Cowden Syndrome
Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol... ORPHA:201
Peters Plus Syndrome
Optic atrophy, Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, C... ORPHA:709
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bicornuate uterus, Cryptorchidism, Lacrimal gland aplasia ORPHA:2363
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Peters-Plus Syndrome
Cryptorchidism, Biliary tract abnormality, Hypoplastic labia majora, Hypoplasia of the vagina, Bi... OMIM:261540
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Uterus didelphys, Cryptorchidism, Congenital hepatic fibrosis, Ambiguous genitalia, Hypoplasia of... ORPHA:93271
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... ORPHA:818
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A... OMIM:618280
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Decreased circulating iron concentration, Increased circulating prolactin con... ORPHA:438213
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Hepatosplenomegaly, Pancreatic cysts OMIM:274000
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Biliar... OMIM:268300
Hermansky-Pudlak Syndrome 6
Perineal fistula, Endometriosis OMIM:614075
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Pallister-Hall Syndrome
Precocious puberty, Small scrotum, Secondary growth hormone deficiency, Aplasia/Hypoplasia of the... ORPHA:672
Cornelia De Lange Syndrome
Abnormality of the uterus, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Hypopla... ORPHA:199
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Orthostatic hypotension, Uterine prolapse ORPHA:287
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Cryptorchidism, Biliary tract abnormality, Aplasia of the u... OMIM:194190
Townes-Brocks Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Rectoperine... ORPHA:857
Coffin-Siris Syndrome 1
Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse OMIM:613795
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
OMIM:612899

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 Casr

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 Casr.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The calcium-sensing receptor stabilizes podocyte function in proteinuric humans and mice. Kidney international (March 2022) Casrtm1c(KOMP)Mbp Casrtm1a(KOMP)Mbp 35271934

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Casrtm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Casrtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Casrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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