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Gene: Casr MGI:1351351

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Gene Summary

Name:
calcium-sensing receptor
Synonyms:
cation sensing receptor,  Gprc2a,  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
increased circulating phosphate level Casrtm1b(KOMP)Mbp HET Early adult 3.26×10-05
decreased prepulse inhibition Casrtm1b(KOMP)Mbp HET Early adult 3.57×10-09
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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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

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, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... OMIM:203330
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... OMIM:145980
Lipedema
Edema OMIM:614103
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cerebral calcification, Cataract, Decreased circulating parathyroid hormone l... OMIM:146200
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Basal ganglia calcification, Nephrolithiasis, Hy... OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Renal phosph... OMIM:612089
Adamantinoma
Hypercalcemia ORPHA:55881
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... ORPHA:99879
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... OMIM:603233
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par... OMIM:617994
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis OMIM:239199
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, ... ORPHA:94086
Hyperparathyroidism 4
Hypercalcemia, Primary hyperparathyroidism, 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
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... OMIM:143880
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria ORPHA:284400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib... OMIM:241530
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral condyles, Femoral bowing, Tibial b... OMIM:307800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... OMIM:614732
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... OMIM:619073
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia ORPHA:2668
Pseudohypoparathyroidism, Type Ic
Cataract, Basal ganglia calcification, Choroid plexus calcification, Elevated circulating thyroid... OMIM:612462
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Nephrogenic diabetes insipidus, Abnormal repetit... ORPHA:213
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... OMIM:239200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Anorexia, Rickets, Hepatosplenomeg... OMIM:611590
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Short stature, R... OMIM:613388
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Decreased response to growth hormone stimulation test, Pseudohypoparathyroi... ORPHA:94089
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Ost... ORPHA:93160
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... ORPHA:289157
Enamel-Renal Syndrome
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... ORPHA:1031
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo... ORPHA:99845
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Cerebral calcification, Cataract, Myopathy, Abnormal circulating calcium-phos... ORPHA:2238
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... OMIM:617671
Lymphatic Malformation 2
Lymphedema OMIM:611944
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300009
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300554
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Dehydration, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal t... OMIM:602722
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor... ORPHA:157215
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Hypophosphatasia, Infantile
Polyhydramnios, Bowing of the legs, Anorexia, Nephrocalcinosis, Unossified vertebral bodies, Incr... OMIM:241500
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidias... ORPHA:36913
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... OMIM:612780
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154275
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Pseudohypoparathyroidism, Type Ia
Cataract, Basal ganglia calcification, Choroid plexus calcification, Pseudohypoparathyroidism, Hy... OMIM:103580
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154276
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypoparathyroidism, Hyperphosphaturia, Bowing of the long bones, Hyp... OMIM:156400
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic... OMIM:193100
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Multiple Endocrine Neoplasia Type 2
Joint laxity, Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia... ORPHA:653
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemi... ORPHA:89937
Kenny-Caffey Syndrome, Type 1
Short palm, Proportionate short stature, Small hand, Decreased skull ossification, Slender long b... OMIM:244460
Central Diabetes Insipidus
Hyponatremia, Anorexia, Dehydration, Weight loss, Depression, Lethargy, Polydipsia, Failure to th... ORPHA:178029
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine... OMIM:162300
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperphosphatem... OMIM:145600
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, L... OMIM:104200
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, ... ORPHA:97289
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary rena... OMIM:145001
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Bowing of the long bones,... ORPHA:2088
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Pseudohypoparathyroidism Type 1C
Calcinosis, Cerebral calcification, Cataract, Decreased response to growth hormone stimulation te... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Elevated circulating cr... OMIM:614727
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ... ORPHA:79445
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hyponatremia, Cataract, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemi... OMIM:617913
Dent Disease
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... ORPHA:1652
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Large for gestati... OMIM:616026
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis, Conjunctivitis OMIM:610455
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt was... OMIM:601678
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Distal Renal Tubular Acidosis
Hypocitraturia, Dehydration, Reduced bone mineral density, Renal cyst, Nephrocalcinosis, Aminoaci... ORPHA:18
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Rhabdomyolysis, Nocturia, Enuresis, Hypokalemia, Hypocalciuria... OMIM:263800
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... ORPHA:411629
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification OMIM:617993
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm,... ORPHA:143
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Bowing of the legs, Rickets, Elevated circulating creatinine co... OMIM:615605
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Lethargy, Hashimoto thyroiditi... ORPHA:199299
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Aminoaciduria, Renal Fanconi syndro... OMIM:219800
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia OMIM:146350
Calciphylaxis
Hyperphosphatemia, Arterial calcification, Stage 5 chronic kidney disease, Secondary hyperparathy... ORPHA:280062
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism, Nephrolithiasis, Cystinuria ORPHA:163693
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Pseudohypoparathyroidism Type 1A
Calcinosis, Cerebral calcification, Cataract, Decreased response to growth hormone stimulation te... ORPHA:79443
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm,... ORPHA:99880
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Hypouricemia, Postnatal growth retardati... OMIM:227810
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration, Foot... OMIM:615883
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... OMIM:271630
Oculoskeletodental Syndrome
Small for gestational age, Renal agenesis, Hypercalcemia, Short stature, Cryptorchidism, Splenome... OMIM:618440
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Dec... ORPHA:93324
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Congenital hypothyroidism, Hamstring contractures, Intrauterine growt... ORPHA:96183
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myo... OMIM:609115
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani... ORPHA:436
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Thyroiditis, Ricket... OMIM:212750
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Fai... OMIM:560000
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Autosomal Dominant Hypocalcemia
Eczema, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hyperm... ORPHA:428
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossif... ORPHA:2762
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... ORPHA:562
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Familial Tumoral Calcinosis
Nephrocalcinosis, Calcification of muscles, Skin rash ORPHA:53715
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... ORPHA:163634
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Cataract 42
Cataract, Developmental cataract OMIM:115900
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati... OMIM:610600
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr... OMIM:616583
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Neutropenia, Hyperammonemia, Dehyd... ORPHA:79312
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Cholelithiasis, ... OMIM:211600
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Hypercalcemia ORPHA:2123
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... ORPHA:3337
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Dysphagia, Abnormal... OMIM:619565
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Hypothyroidism, Congenital, Nongoitrous, 7
Short stature, Growth delay, Decreased circulating T4 concentration, Reduced TSH response to thyr... OMIM:618573
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocytopenia, Osteopo... OMIM:606054
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac... ORPHA:251004
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Abnormality of the kidney, Reduced bone mineral density, Scolio... ORPHA:2611
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Osteoarthritis OMIM:616833
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus,... OMIM:613404
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive, Anemia ORPHA:28
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... OMIM:606407
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short humeru... OMIM:239000
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormality of the kidney, Hypercalcemia, Abnormal sacrum morphology, B... ORPHA:2591
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elevated circulating creatine kinase concentration, Elbow contracture, Ankle con... OMIM:620386
Chronic Hiccup
Depression, Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... OMIM:309000
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... OMIM:203400
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... OMIM:215100
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Myopathy, Astigmatism, Hyperphosphatemi... ORPHA:2323
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne... OMIM:241200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Hypocalcemia, Nephropathy, Hypothyroidism ORPHA:1563
Ck Syndrome
Long toe, Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, Long fingers,... ORPHA:251383
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Dysspondyloenchondromatosis
Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morpholo... ORPHA:85198
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system... OMIM:264350
Oncogenic Osteomalacia
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... ORPHA:352540
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration, Intrauterine growth ... OMIM:601410
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Cryptorchidism, Dehydration, Dysphagia, Platyspondyly, Cone-shaped ep... OMIM:618958
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Hyperactivity, Abnorma... ORPHA:805
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... OMIM:602080
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration OMIM:607748
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu... ORPHA:534
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Postnatal growth retarda... ORPHA:79303
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cry... OMIM:214150
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Short stature, Kyphoscoliosis, Hyperlordosis, Coxa valga, Disproportionate short... OMIM:618363
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Trichomegaly
Cataract OMIM:190330
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, Acute rhabdomyolysis, A... ORPHA:423
Wilson Disease
Decreased circulating ceruloplasmin concentration, Edema, Tremor, Osteoarthritis, Pedal edema, Ha... OMIM:277900
Idiopathic Congenital Hypothyroidism
Facial edema, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stim... ORPHA:95717
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Aminoaciduria, Glycos... OMIM:618913
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo... OMIM:300539
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperuricemia, Hypoph... ORPHA:469
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... ORPHA:95716
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypoph... ORPHA:289176
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Short stature, Hypercalcemia, Hyperlordosis, Nephrocalcinosis, Thoracic ky... ORPHA:557003
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ... OMIM:605899
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Progressive Familial Intrahepatic Cholestasis
Short stature, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to thrive ORPHA:172
Classic Galactosemia
Decreased serum insulin-like growth factor 1, Dystonia, Postural tremor, Abnormal erythrocyte enz... ORPHA:79239
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... OMIM:208230
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Nathalie Syndrome
Cataract ORPHA:2663
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Joint laxity, Short stat... OMIM:613658
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Hydatidiform Mole
Enlarged uterus ORPHA:99927
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
Increased level of methylsuccinic acid in urine, Elevated circulating acylcarnitine concentration... ORPHA:26792
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Abnorma... OMIM:618484
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Salt ... ORPHA:95409
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort... ORPHA:171876
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypomethioninemia, Syndactyly, Macrocytic anemia, Pancytopenia, Hemolytic-uremic ... ORPHA:2169
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... OMIM:619795
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Kyphoscoliosis, Short neck, Tremor, Flexion contracture, Small hand... OMIM:300055
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Elevated circulating thyroid-st... OMIM:101800
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis o... ORPHA:1901
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, Hy... ORPHA:263455
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Growth delay, Attention deficit hyperactivity disorder, Hypomagnesemia, Obsessive... OMIM:619908
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Anemia ORPHA:69077
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... ORPHA:699
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... ORPHA:93360
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, ... OMIM:612847
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Kyphoscoliosis, Elevated circulating creatine kinase concentration, Joint hypermobility ORPHA:300179
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Bipolar affective disorder, Short stature, Kyphoscoliosis, Anorexi... ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... OMIM:619743
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Abnormal circulating creatine kinase concentration, Dysphagia, Kyphoscoliosis, Knee flexion contr... ORPHA:496689
Warburg Micro Syndrome 1
Overlapping toe, Short stature, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Failure to thrive, ... OMIM:600118
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... ORPHA:289504
Renal Hypoplasia, Bilateral
Edema, Renal cyst, Vesicoureteral reflux, Lethargy, Decreased glomerular filtration rate, Hyponat... ORPHA:97362
Opsismodysplasia
Polyhydramnios, Edema, Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of fin... OMIM:258480
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... ORPHA:536516
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes, Large for ges... ORPHA:324575
Pseudopseudohypoparathyroidism
Short metacarpal, Short stature, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Sho... OMIM:612463
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder, Cataract OMIM:617370
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... OMIM:619386
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad hallux, Short stature, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxia... ORPHA:3433
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Renal insufficiency, Neonatal insulin-dependent diabetes mel... ORPHA:1667
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid level, Agitati... ORPHA:276575
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Cervical kyphosis... OMIM:255800
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... OMIM:128100
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Post... ORPHA:93325
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial... ORPHA:476126
Foxg1 Syndrome
Short stature, Kyphoscoliosis, Bruxism, Choreoathetosis, Severe postnatal growth retardation, Sco... ORPHA:561854
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Reduce... ORPHA:168558
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Growth delay, Uraciluria, Lethargy, Failure to thrive OMIM:274270
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Corneal opacity, Precocious puberty, Horseshoe kidney, Hypophosphatemic rickets OMIM:163200
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... ORPHA:3041
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Nephropathy,... OMIM:208085
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... ORPHA:53
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Cataract, Female hypogonadism, Chronic active hepatitis, ... OMIM:240300
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... ORPHA:90041
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypo... ORPHA:33355
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Kyphoscoliosis, Aggressive behavior, Cervical spondylosis, Pseudobulbar paralysis, Apa... ORPHA:199354
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Agitati... ORPHA:276580
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosi... OMIM:612350
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Choreoathe... ORPHA:27
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... ORPHA:90791
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Xerostomia, Premature adrenarche, Micropenis, Lethargy, Hypothalamic luteinizing horm... ORPHA:398079
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Decr... ORPHA:90674
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Nephropathy, Elevated circulating creatinine concentrati... ORPHA:29073
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... ORPHA:251274
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Arthri... OMIM:602390
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti... OMIM:614857
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... ORPHA:247353
Lymphatic Malformation 3
Lymphedema OMIM:613480
King-Denborough Syndrome
Lumbar hyperlordosis, Short stature, Elevated circulating creatine kinase concentration, Kyphosco... OMIM:619542
Allan-Herndon-Dudley Syndrome
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Polyh... ORPHA:59
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... OMIM:619489
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell adenomas, Developmental catarac... OMIM:147630
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:276621
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele... OMIM:263400
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract OMIM:600886
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Hypospadias, Short sta... OMIM:611209
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... OMIM:176920
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Spondylometaphyseal Dysplasia, Kozlowski Type
Disproportionate short-trunk short stature, Kyphoscoliosis, Short neck, Irregular, rachitic-like ... OMIM:184252
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification OMIM:614473
Osteootohepatoenteric Syndrome
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v... OMIM:619377
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Decreased muscle mass, Facial hypotonia, Diabetes insipidus ORPHA:500533
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Xerostomia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomag... OMIM:175500
Primary Intestinal Lymphangiectasia
Lymphopenia, Edema, Pericardial effusion, Weight loss, Growth delay, Reduced proportion of CD4+ e... ORPHA:90362
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Hyperinsulinem... ORPHA:276556
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Impulsivity, Hypophosphaturia, Hyperlordosis, Aggressive behavior, Hypo... ORPHA:73223
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Arachnodactyly, Kyphoscoliosis, Methioninuria, Limitation of joint mobility, Osteoporosis, Hyperh... OMIM:236200
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor... ORPHA:93304
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Agitation, Hy... ORPHA:276608
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Kinetic tremor,... OMIM:616817
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Anorexia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric... OMIM:557000
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... ORPHA:97279
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... ORPHA:3429
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Compulsive behaviors, Letharg... ORPHA:398069
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore... ORPHA:97278
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldoster... OMIM:177735
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Intrauterine growth retardation, Small for gestational age, Lethargy OMIM:617065
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Kyphoscoliosi... ORPHA:391408
White Sponge Nevus 2
Edema OMIM:615785
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent... ORPHA:69076
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... OMIM:600384
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Basal ganglia calcification, Chronic kidney disease, Thickened g... OMIM:146255
Hereditary Central Diabetes Insipidus
Weight loss, Growth delay, Lethargy, Polydipsia, Diabetes insipidus ORPHA:30925
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... OMIM:620366
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermatitis, Unilateral r... ORPHA:2237
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia, Failure to thrive OMIM:607765
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:29072
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cerebral calcification, Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabs... OMIM:604278
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Rocker bottom foot, Short ... OMIM:610758
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Flexion contracture, Elbow flexion contracture, Insulin-resistant dia... OMIM:248370
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Polyhydramnios, Flexion contracture, Osteoporosis, Rickets, Opisthotonu... ORPHA:2671
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... ORPHA:79159
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... ORPHA:93672
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Edema, Goiter, Delayed pr... ORPHA:90673
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Myositis, Recurrent urinary tract infections, Elevated circulating creatine ... ORPHA:36234
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Postural tremor, Kyphoscoliosis, Wrist flexion contracture, Ankle flexion contracture OMIM:616668
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... OMIM:259700
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Failure to thrive, Dehydration OMIM:614265
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic... OMIM:236270
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno... ORPHA:2636
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis... OMIM:618183
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Elevated circulating creatine kinase concentration, Kyphoscoliosis OMIM:607855
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556037
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tr... OMIM:251100
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific... OMIM:618392
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Stiff neck, Dystonia, Kyphoscoliosis, Dysphagia OMIM:618230
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Camptodactyly, Adducted thumb OMIM:618011
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviat... ORPHA:1227
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunction, Aminoacidur... ORPHA:436271
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Small for gestational age, Kyphoscoliosis OMIM:300844
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Hype... OMIM:251000
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Facial hypotonia, Diabetes insipidus OMIM:611087
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... ORPHA:65759
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... OMIM:222748
19P13.3 Microduplication Syndrome
Hyperactivity, Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Long fingers, Osteo... ORPHA:447980
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Thrombocytopenia, Neutropenia, Hyperammonemia, Renal tubular dysfunction, Ch... ORPHA:289916
Cysticercosis
Calcification of muscles, Cerebral calcification, Iridocyclitis, Abnormal skeletal muscle morphol... ORPHA:1560
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore... ORPHA:97261
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Oliguria, Abnormal blood ion concentration, Hypop... ORPHA:31824
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Calcinosis cutis, Chronic kidney diseas... ORPHA:416
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Pheochromocytoma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... OMIM:171300
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro... OMIM:268315
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Limb joint contracture, Hypogonadotropic hypogonadism, Kyphoscoliosis, Short stature, Central adr... OMIM:612079
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Delayed puberty ORPHA:90154
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Roussy-Lévy Syndrome
Postural tremor, Kyphoscoliosis, Genu valgum, Scoliosis, Urinary bladder sphincter dysfunction ORPHA:3115
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Anore... ORPHA:223
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Edema, Polyhydramnios, Short neck, Kyphoscoliosis, Elevated 8-dehydrocholesterol, Ele... OMIM:302960
Richieri Costa-Da Silva Syndrome
Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver... ORPHA:3101
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Polyhydramnios, Kyphoscoliosis, Hip dislocation, Nephrocalcinosis, Neu... OMIM:618005
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Shor... ORPHA:457395
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure t... OMIM:304800
Glutaric Acidemia Type 3
Sacral dimple, Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level... ORPHA:35706
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Arthrogryposis, Distal, Type 2A
Polyhydramnios, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contrac... OMIM:193700
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Hype... OMIM:125800
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... ORPHA:1159
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Leukodystrophy, Hypomyelinating, 17
Growth delay, Flexion contracture, Kyphoscoliosis OMIM:618006
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Abnormal repeti... OMIM:615541
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Kyphoscoliosis, Cryptorchidism, Obesity, Upper eyelid edema, Hip dy... ORPHA:412035
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, ... OMIM:114300
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Mildly elevated creatine kinase, Kyphoscoliosis ORPHA:370980
Mohr-Tranebjaerg Syndrome
Tremor, Dysphagia, Increased susceptibility to fractures, Dystonia, Abnormal posturing OMIM:304700
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... OMIM:271510
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Aminoaciduria, Abnormality of the vertebral column, Dystonia, Lethargy, Failure ... OMIM:250620
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Platyspon... OMIM:617974
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia, Joint stiffness ORPHA:314911
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Short stature, Anorexia, Megaloblastic anemia, Lethargy, Thrombocytopenia ORPHA:49827
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... OMIM:251110
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Lower-limb joint contracture OMIM:613710
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... ORPHA:427
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... OMIM:277720
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Central hypoth... ORPHA:95427
Phenylketonuria
Maternal hyperphenylalaninemia, Cerebral calcification, Increased level of hippuric acid in urine... OMIM:261600
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Edema, Neonatal death, Lethargy, Brachydactyly OMIM:610498
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi... ORPHA:2176
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... ORPHA:2370
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture OMIM:610687
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Growth delay, Hyperactive renin-angiote... OMIM:214700
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Flexion contracture OMIM:617105
Glut1 Deficiency Syndrome 1
Choreoathetosis, Paroxysmal dystonia, Paroxysmal lethargy, Lethargy OMIM:606777
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Broad hallux, Fifth finger distal phalanx clino... OMIM:615923
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal odontoid process morphology, Abnormal limb epiphysis morphology, Kyph... ORPHA:2976
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Growth delay, Dysphagia, Lethargy, Failure to thrive OMIM:613561
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Hypothy... ORPHA:445038
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Central Core Disease
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Elevated circulating creat... ORPHA:597
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... OMIM:212140
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp... OMIM:618120
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Cryptorchidism, Flexion cont... ORPHA:75496
Spastic Paraplegia 20, Autosomal Recessive
Short stature, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Dysphagia, Urina... OMIM:275900
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Aggressive behavior, Split hand, Organic aciduria, Scoliosis, Dysphagia OMIM:614707
Rothmund-Thomson Syndrome
Calcinosis, Juvenile cataract, Malar rash, Skin rash ORPHA:2909
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Lethargy, Failure to thrive OMIM:237310
Congenital Myopathy 23
Flexion contracture, Kyphoscoliosis OMIM:609285
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy, Podagra OMIM:300322
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... OMIM:607944
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... OMIM:615349
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Kyphoscoliosis OMIM:617977
Rothmund-Thomson Syndrome Type 1
Calcinosis, Developmental cataract, Hypogonadism, Juvenile cataract, Hypothyroidism ORPHA:221008
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Severe short stature, Ab... ORPHA:93316
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the t... ORPHA:3344
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Increased hematocrit, Ascites, Polycyth... ORPHA:284227
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Elevated circulating creatine kinase concentration, Li... OMIM:300280
Gracile Bone Dysplasia
Failure to thrive, Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Decreased skul... OMIM:602361
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli... OMIM:610968
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... ORPHA:340
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Small for gestational age, Hypospadias, Polyhydramnios, Edema, Sandal... OMIM:607143
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Joubert Syndrome 18
Joint laxity, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, Postaxial polydactyly, Ho... OMIM:614815
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Tatton-Brown-Rahman Syndrome
Bipolar affective disorder, Kyphoscoliosis, Proportionate short stature, Aggressive behavior, Cry... ORPHA:404443
Lymphatic Malformation 10
Lymphedema OMIM:619369
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... ORPHA:1578
Scholte Syndrome
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased te... OMIM:300977
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Lethargy, Thrombocytopenia OMIM:243500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Abnormal erythrocyte morphology, Lethargy, Dystonia ORPHA:71277
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Kyphoscoliosis OMIM:619099
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Edema, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia ORPHA:309031
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, Dystonia, Hyperalan... OMIM:312170
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo... ORPHA:90794
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Type II diabetes mellitus, Abnormal c... ORPHA:225
Parkinson-Dementia Syndrome
Tremor, Kyphoscoliosis OMIM:260540
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Edema, Minimal change gl... OMIM:618348
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Dehydration, Compulsive behaviors, Hypoglutaminemia, Apathy, Elevated plasma ci... ORPHA:3008
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Os... OMIM:615398
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bo... ORPHA:667
Myopathy, Myofibrillar, 2
Cataract, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadri... OMIM:608810
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Anorexia, Leukocytosis, Hyperammonemia, Dehydration, Weight loss, Apathy, Hyper... ORPHA:134
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Isolated Atp Synthase Deficiency
Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypogonadism, Dysto... ORPHA:254913
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Roussy-Levy Hereditary Areflexic Dystasia
Hammertoe, Upper limb postural tremor, Kyphoscoliosis, Action tremor OMIM:180800
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... OMIM:301075
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Tremor, Horseshoe kidney, Dysphagia, Choreoathetosis, Dystonia, Joint contracture OMIM:617664
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Dehydration, Hyperhomocystinemia, Elevated circulating palmito... OMIM:251120
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Tremor, Flexion contracture, Neutropenia, Dehydration, Opisthotonus, ... OMIM:616271
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Reynolds Syndrome
Calcinosis, Calcinosis cutis, Hyperbilirubinemia, Erythema nodosum OMIM:613471
Raine Syndrome
Increased bone mineral density, Hydroureter, Bowing of the long bones, Short stature, Short neck,... OMIM:259775
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Tremor, Dysphagia, Choreoathetosis, Dystonia, Lethargy OMIM:233910
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Timothy Syndrome
Pneumonia, Hypothyroidism, Hypocalcemia OMIM:601005
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Small han... ORPHA:254531
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni... OMIM:300232
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Developmental And Epileptic Encephalopathy 92
Lethargy, Dystonia OMIM:617829
Rothmund-Thomson Syndrome Type 2
Calcinosis, Juvenile cataract, Developmental cataract ORPHA:221016
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Hypoplastic scapulae, Femoral retroversion, Kyph... OMIM:607371
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Dystonia OMIM:618224
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Bowing of the long bones, Congenital kyphoscoliosis, Arachnodactyly,... OMIM:121050
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Periorbital ... ORPHA:904
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Calcinosis cutis, Nephrocalc... OMIM:259900
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Growth delay, Dysphagia, Lethargy, Failure to thrive OMIM:618226
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Renal salt w... ORPHA:90795
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con... ORPHA:231222
Holocarboxylase Synthetase Deficiency
Anorexia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Lethargy, Thrombocytopenia ORPHA:79242
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot... ORPHA:2410
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Renal neoplasm, Arachnodactyly, Os... ORPHA:536467
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,... OMIM:252930
Familial Cold Urticaria
Arthritis, Polydipsia, Dehydration ORPHA:47045
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, H... ORPHA:175
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis OMIM:612913
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Renal salt wasting, Bone-mar... ORPHA:275761
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Weight loss, Opisthotonus, Increased susceptibility to fractures, Attention... ORPHA:216866
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Edema, Anorexia, Leukocytosis, Dehydration, Weight loss, Hyperammonemia, Leukopenia, 3... ORPHA:20
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... OMIM:231070
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... ORPHA:769
Chst3-Related Skeletal Dysplasia
Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Disproportionate short-trunk s... ORPHA:263463
X-Linked Immunoneurologic Disorder
Myopathy, Functional abnormality of the bladder, Cataract ORPHA:2571
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Splenomegaly, Oligosacchariduria, Scoliosis, Camptodactyly, Clinodactyly, Brachyd... OMIM:616354
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Tremor, Splenomegaly, Decreased serum zinc, Hypogonadism, Lethargy, Decreased seru... OMIM:201100
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Acrootoocular Syndrome
Short metacarpal, Small for gestational age, Abnormal finger flexion crease, Decreased response t... ORPHA:2980
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Opisthotonus,... OMIM:605711
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy, Hypothyroidism, Goiter OMIM:274400
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Monosomy 18P
Generalized dystonia, Short stature, Kyphoscoliosis, Short neck, Lymphedema, Hypothyroidism, Brac... ORPHA:1598
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Medial calcification of large arteries, Cerebral calcification, Adrenal calcif... ORPHA:51608
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis, Growth de... OMIM:610756
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Short stature, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, Postnatal gro... OMIM:612513
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentr... ORPHA:254892
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Short stature, Pancytopenia, Thromb... OMIM:259720
Cataract 47
Microcornea, Cataract OMIM:612018
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy, Dystonia OMIM:246900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... OMIM:618476
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va... OMIM:617425
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Short stature, Spl... OMIM:604168
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation ORPHA:79476
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... OMIM:203780
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Polyhydramnios, Short neck, Flexion contracture, Hand tremor, Acanthocytosis, ... OMIM:618947
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Focal dystonia, Bradykinesia, Limb dyst... ORPHA:101150
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Unilateral renal agenesis... ORPHA:96170
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Ky... ORPHA:466722
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity, Flexion contractur... ORPHA:536471
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Hypertriglyceri... OMIM:307030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Cataract, Elevated circulating creatine kinase concentra... OMIM:615352
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive, Elbow contracture OMIM:611523
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... ORPHA:36238
Igg4-Related Thyroid Disease
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... ORPHA:64744
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Short stature, Elevated ... OMIM:608747
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Fle... ORPHA:35173
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... ORPHA:71212
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Re... ORPHA:31826
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Abnor... ORPHA:93315
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... ORPHA:93357
Huntington Disease-Like 1
Restlessness, Depression, Abnormal shoulder morphology, Bradykinesia, Weight loss, Abnormal postu... ORPHA:157941
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... ORPHA:3409
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter... OMIM:194050
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Oliguria, Hyper... ORPHA:466650
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Coffin-Siris Syndrome 6
Short stature, Kyphoscoliosis, Tics, Attention deficit hyperactivity disorder, Clinodactyly, Abno... OMIM:617808
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Elevated circulating creat... ORPHA:26793
Shigellosis
Hyponatremia, Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Leukocytosis, Ur... ORPHA:810
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Pyruvate Dehydrogenase Deficiency
Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Growth delay, Choreoathetosis, D... ORPHA:765
Leukoencephalopathy With Vanishing White Matter 1
Decreased circulating progesterone, Primary gonadal insufficiency, Lethargy OMIM:603896
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Wide anterior fontanel, Hyperprolinemia, Hyperalaninemia, Lethargy OMIM:619064
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Short stature, Megaloblastic ane... OMIM:277380
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive ORPHA:2089
Autosomal Agammaglobulinemia
Osteomyelitis, Dehydration, Arthritis, Neutropenia, Failure to thrive ORPHA:33110
Joint Laxity, Short Stature, And Myopia
Kyphoscoliosis, Short stature, Cervical kyphosis, Joint hypermobility OMIM:617662
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... OMIM:177170
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... OMIM:610377
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Failure to t... ORPHA:927
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Galactosemia I
Cataract, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Albuminuria, A... OMIM:230400
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Charcot-Marie-Tooth Disease Type 4D
Hammertoe, Split hand, Postural tremor, Kyphoscoliosis ORPHA:99950
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab... ORPHA:666
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, 2-3 toe syndactyly, Scoliosis,... ORPHA:391307
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Diabetes mellitus, Hypertriglyceridemia, Sacral di... ORPHA:536532
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... OMIM:271640
Harlequin Ichthyosis
Limitation of joint mobility, Dehydration, Self-injurious behavior, Hand polydactyly, Foot polyda... ORPHA:457
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Osteoporosis, Hi... OMIM:616507
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... ORPHA:2260
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Short stature, Postnatal growth retardation, Osteoporos... ORPHA:73272
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... OMIM:219080
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria OMIM:615026
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Hypocalcemia, Lethargy ORPHA:746
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diabetes mellitus, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Olig... ORPHA:544482
Monosomy 13Q34
Hypercalcemia, Fetal pyelectasis, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly... ORPHA:96168
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... ORPHA:464288
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis OMIM:235255
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... OMIM:188400
Leukodystrophy, Hypomyelinating, 3
Joint contracture, Failure to thrive, Kyphoscoliosis OMIM:260600
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Rahman Syndrome
Cryptorchidism, Kyphoscoliosis, Camptodactyly OMIM:617537
Gaucher Disease Type 1
Osteopenia, Anorexia, Osteoarthritis, Pedal edema, Leukopenia, Increased bone mineral density, Pe... ORPHA:77259
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Short stature, Recurrent fractures, Elevated circulating creatine kinase concentrat... ORPHA:2785
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Megalo... ORPHA:79282
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidis... ORPHA:797
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Ataxia-Oculomotor Apraxia Type 4
Abnormal toe morphology, Obesity, Kyphoscoliosis, Dystonia ORPHA:459033
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Edema, Tremor, Clubbing of fingers, Scoliosis, Dysphagia OMIM:619574
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... ORPHA:342
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Renal cyst, Dislocated radial head, Joint laxity, Hypospadias, Short stat... OMIM:102500
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Kyphoscoliosis,... ORPHA:98805
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... ORPHA:96184
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... OMIM:615751
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur... OMIM:608836
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Opisthotonus, Elevated urinary 3-methylcrotonylglycine level, Fa... OMIM:210200
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis... OMIM:301040
Leprechaunism
Skeletal muscle atrophy, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Ne... ORPHA:508
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Homocitrullinuria OMIM:238970
Enteric Anendocrinosis
Type I diabetes mellitus, Dehydration ORPHA:83620
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia,... OMIM:109130
Microphthalmia, Syndromic 13
Short stature, Kyphoscoliosis OMIM:300915
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,... ORPHA:230
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Larsen-Like Syndrome
Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Radial deviation of the 4th ... OMIM:608545
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Lethargy, Hypospadias, Cryptorchidism, Wide anterior f... OMIM:614866
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis, Polyhydramnios, Rhizomelic arm shortening, Abnormal fibular epiphysis morphology,... ORPHA:96190
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy OMIM:618225
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hyperammonemia, Dehydration, Growth delay, Failure to thrive OMIM:615453
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Abnormal blood ion concentration, Dehydration, Renal cyst, Aplasia/Hyp... ORPHA:79404
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... ORPHA:2969
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hypothyroidism, Hypoparathyroidism, Osteoporosis, Hep... ORPHA:231226
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Lethargy, F... OMIM:237300
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Bruxism, Dysphagia, Choreoathetosis, Growth delay, Lumbar kyphoscoliosis, Dystonia, Clino... OMIM:619422
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Anterior tibial bowing, Delayed epiphyseal... OMIM:114290
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Cyclic Vomiting Syndrome
Growth delay, Lethargy, Attention deficit hyperactivity disorder, Anorexia OMIM:500007
Citrullinemia Type I
Torticollis, Hyperammonemia, Elevated plasma citrulline, Lethargy, Failure to thrive ORPHA:247525
Galactokinase Deficiency
Cataract, Hypergonadotropic hypogonadism, Hyperinsulinemia, Increased level of galactitol in plas... ORPHA:79237
Pseudoxanthoma Elasticum
Cerebral calcification, Acne, Skin rash, Nephrocalcinosis, Hypothyroidism ORPHA:758
Myotonia With Skeletal Abnormalities And Mental Retardation
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum OMIM:255710
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... OMIM:156550
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom... OMIM:277410
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Crisponi/Cold-Induced Sweating Syndrome 1
Short palm, Kyphoscoliosis, Short neck, Tapered finger, Elbow flexion contracture, Opisthotonus, ... OMIM:272430
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... OMIM:615838
Distal Deletion 12Q
Ectopic kidney, Short neck, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodact... ORPHA:96149
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hammertoe, Split hand, Kyphoscoliosis OMIM:118220
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Monosomy 18Q
Arachnodactyly, Joint hypermobility, Kyphoscoliosis, Tapered finger, Bilateral cryptorchidism, Hy... ORPHA:1600
Double Outlet Right Ventricle
Hypoparathyroidism, Short stature, Abnormality of cartilage of external ear, Hypocalcemia, Failur... ORPHA:3426
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Kyphoscoliosis OMIM:607831
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,... OMIM:606069
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Cataract, Elevated circulating creatine kinase concentration, Delayed pu... OMIM:615704
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Acrorenal-Mandibular Syndrome
Hemivertebrae, Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Split foot, Oligohydra... OMIM:200980
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... ORPHA:231214
Charcot-Marie-Tooth Disease, Type 4B2
Hammertoe, Split hand, Kyphoscoliosis OMIM:604563
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... OMIM:143095
Microsporidiosis
Osteomyelitis, Cachexia, Anorexia, Abnormality of the spleen, Abnormality of the parathyroid glan... ORPHA:2552
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Hyper... ORPHA:79284
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Brachydactyly, Short stature, Kyphoscoliosis, Cryptorchidism, Clinodactyly, Partia... OMIM:616331
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor... OMIM:309583
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,... OMIM:184253
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Edema, Leukocytosis, Neutropenia, Lethargy, Ascites, Thr... ORPHA:391673
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98793
Warburg Micro Syndrome 3
Kyphoscoliosis, Postnatal growth retardation, Flexion contracture, Clinodactyly of the 5th finger... OMIM:614222
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Idiopathic Intracranial Hypertension
Back pain, Lethargy, Obesity, Depression ORPHA:238624
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98754
De Barsy Syndrome
Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Postnatal growth retardati... ORPHA:2962
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Dystonia OMIM:616684
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Joint hypermobility OMIM:616470
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177904
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma ORPHA:1473
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Duplicated collecting system, Overlapping toe, Rocker bottom foot,... ORPHA:488642
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... ORPHA:970
Seckel Syndrome 8
Short stature, Kyphoscoliosis, Ectopic kidney OMIM:615807
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177901
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Abnormality of the kidney, Polyhydramnios, Cryptorchidism, Reduced bone mineral ... ORPHA:466926
Marburg Hemorrhagic Fever
Back pain, Reticulocytosis, Renal insufficiency, Lymphopenia, Elevated circulating creatine kinas... ORPHA:99826
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... ORPHA:231625
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Kyphoscoliosis, Acanthocyto... ORPHA:14
Meningococcal Meningitis
Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia,... ORPHA:33475
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar... OMIM:253200
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prol... ORPHA:83471
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Metatarsus adductus, Postnatal gro... ORPHA:300570
Ogden Syndrome
Torticollis, Broad hallux, Postnatal growth retardation, Cryptorchidism, Scoliosis, Lethargy ORPHA:276432
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Craniosynostosis, Kyphoscoliosis, Tapered finger, Cryptorchidism, Generalized ... ORPHA:2953
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe short stature, Hypospadias, Severe generalized osteoporosis, Kyphoscolios... OMIM:210730
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Rhyns Syndrome
Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo... OMIM:602152
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Split hand, Hammertoe, Scoliosis OMIM:145900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom... OMIM:263200
Sotos Syndrome
Ureteral duplication, Tremor, Flexion contracture, Pedal edema, Vesicoureteral reflux, Hypothyroi... ORPHA:821
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hammertoe, Split hand, Kyphoscoliosis OMIM:118200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont... ORPHA:115
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... ORPHA:94068
Proximal Myotonic Myopathy
Cataract ORPHA:606
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis OMIM:300886
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Proteinuria, Splenomegaly, Hydrops fetalis, Reduced bone mineral de... ORPHA:834
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Opisthotonus, Organic aciduria,... OMIM:210210
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Urinary incontinence, Dysphagia, Titubation, Bradykinesia, Dystonia, Abnormal pos... ORPHA:225147
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Hyposegmentation of neutrophil nuclei, Self-i... OMIM:620075
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis, Tremor, Focal dystonia, Blepharospasm, Bradykinesia, Inappropriate behavior, Trem... ORPHA:99750
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... OMIM:259770
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... OMIM:602535
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Pituitary Adenoma 4, Acth-Secreting
Edema, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Neph... OMIM:219090
Congenital Myasthenic Syndrome
Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Kyphoscoliosis, Polyhyd... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Kyphoscoliosis, Polyhyd... ORPHA:98914
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... OMIM:614922
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... OMIM:313400
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy, Hemolytic an... ORPHA:447
Tetrasomy 15Q26
Arachnodactyly, Kyphoscoliosis, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation,... OMIM:614846
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropeni... ORPHA:124
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Cataract, Renal dysplasia OMIM:300990
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Palpebral edema, Kyphoscoliosis, Oligosacchariduria, Hepatospleno... ORPHA:397709
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Sandal gap, Thoracolumbar scoliosis, Kyphoscoliosis, Recurrent shoulder dislocatio... ORPHA:230851
Frank-Ter Haar Syndrome
Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... OMIM:249420
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Maple Syrup Urine Disease
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality... ORPHA:314478
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Truncal titubation, Dysphagia, Opisthotonus, Dystonia, Lethargy, Craniofacial dystonia, Action tr... OMIM:607483
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Diastasis recti, Adrenocortical carcinoma, Nephrolithiasis, Renal cort... OMIM:130650
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Ethylmalonic aciduria, Scoliosis, Lethargy, Failure to thrive OMIM:201470
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Alobar Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... ORPHA:93926
Lobar Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... ORPHA:93924
Semilobar Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... ORPHA:220386
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Congenital Tufting Enteropathy
Arthritis, Failure to thrive, Dehydration, Weight loss ORPHA:92050
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism, Lethargy ORPHA:3282
Obesity And Hypopigmentation
Red hair OMIM:620195
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Netherton Syndrome
Short stature, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis ORPHA:634
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Renal cell carcinoma, Medullary thyroid carcinoma ORPHA:122
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency, Megacystis, Reduced bone mineral density, Abnormali... ORPHA:977
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Beckwith-Wiedemann Syndrome
Ureteral duplication, Polyhydramnios, Large for gestational age, Vesicoureteral reflux, Nephropat... ORPHA:116
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Acne, Seborrheic dermatitis, Chronic ... ORPHA:567
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Recurrent fractures, Kyphoscoliosis, Ectopic kidney, Arachnodactyly, Crypt... ORPHA:3063
Charcot-Marie-Tooth Disease, Type 4D
Hammertoe, Claw hand deformity, Kyphoscoliosis OMIM:601455
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small for gestational age, Short stature, Kyphoscoliosis, Cryptorchid... OMIM:268400
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... ORPHA:96179
Lamellar Ichthyosis
Renal insufficiency, Short stature, Dehydration ORPHA:313
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Failure to thrive, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated h... OMIM:617156
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Polyhydramnios, Large for gestational age, Coxa valga, Limitation of ... ORPHA:254519
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation, Kyphoscoliosis OMIM:618339
Kagami-Ogata Syndrome
Kyphoscoliosis, Polyhydramnios, Coxa valga, Long fingers, Splenomegaly, Flexion contracture OMIM:608149
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Large for gestational age, Short neck, Flexion contracture, Hemivertebrae, Tibial... ORPHA:96334
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Pericardial effusion, Splenomegaly, Bone cyst, Enlarged lacrimal glands, ... OMIM:181000
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract ORPHA:414
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Melnick-Needles Syndrome
Short humerus, Ureteral stenosis, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae,... OMIM:309350
Hennekam Syndrome
Camptodactyly of finger, Ectopic kidney, Horseshoe kidney, Hypocalcemia, Erysipelas ORPHA:2136
Schinzel-Giedion Syndrome
Short neck, Renal cyst, Tibial bowing, Micropenis, Myeloid leukemia, Streak ovary, Hypospadias, W... ORPHA:798
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cerebral calcification, Adrenal hyperplasia, Cataract, Primary adrenal insuff... ORPHA:3453
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Contractures of the large joints, Abnormal thumb morphology, Kyphoscoliosis ORPHA:324410
Liver Disease, Severe Congenital
Chronic gastritis, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia... OMIM:619991
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... ORPHA:91500
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Arachnodactyly, Short stature, Increased circulating gonadotropin level... ORPHA:243
Dengue Fever
Leukopenia, Lethargy, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Citrullinemia, Classic
Failure to thrive, Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxicat... OMIM:215700
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Velocardiofacial Syndrome
Hypoparathyroidism, Posterior embryotoxon, Hypocalcemia OMIM:192430
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... OMIM:120330
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:48818
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5... OMIM:614376
Restrictive Dermopathy 1
Ureteral duplication, Limb joint contracture, Hypospadias, Adrenal hypoplasia, Polyhydramnios, Ky... OMIM:275210
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior, Impulsivity, Dehydration, Dysph... ORPHA:2131
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Type I... ORPHA:1979
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypoplasti... ORPHA:3455
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,... ORPHA:263508
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Hypogonadis... ORPHA:2983
Charcot-Marie-Tooth Disease, Type 4A
Hammertoe, Kyphoscoliosis OMIM:214400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... ORPHA:163979
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Seborrheic dermatitis, Renal cyst, Uveitis, Conjunc... ORPHA:488618
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Craniofacioskeletal Syndrome
Hypocalcemia, Hypospadias, Hydronephrosis OMIM:300712
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal ... ORPHA:582
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis, Short stature, Hip dislocation, Horseshoe kidney ORPHA:101003
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr... OMIM:308940
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Neonatal Severe Primary Hyperparathyroidism
Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circ... ORPHA:417
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Lethargy, Transient hyperlipidemia ORPHA:156
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... OMIM:201475
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,... OMIM:275350
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Trisomy 8P
Multiple joint contractures, Fetal pyelectasis, Nephrocalcinosis, Astigmatism, Micropenis, Hetero... ORPHA:264450
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, P... ORPHA:96191
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Hallux valgus, Kyphoscoliosis, Aggressive behavior, Tremor, Cryptorchidism, Kyphosi... OMIM:300967
Isolated Complex I Deficiency
Increased serum pyruvate, Diabetes mellitus, Proximal tubulopathy, Intrauterine growth retardatio... ORPHA:2609
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Episodic Ataxia Type 1
Choreoathetosis, Kyphoscoliosis, Scoliosis ORPHA:37612
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Dislocate... ORPHA:2044
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Organic aciduria, Lethargy, Elevated urinary 3-methylcrotonylglycine level, 3-hyd... OMIM:253270
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Vici Syndrome
Lymphopenia, Elevated circulating creatine kinase concentration, Postnatal growth retardation, Dy... OMIM:242840
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification... OMIM:109400
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... ORPHA:1328
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Lethargy, Limb dystonia OMIM:604377
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... OMIM:311250
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Arthrogryposis And Ectodermal Dysplasia
Diabetes mellitus, Short stature, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congeni... OMIM:601701
Charge Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, H... OMIM:214800
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Polyhy... ORPHA:2020
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis OMIM:260400
Loeys-Dietz Syndrome 5
Failure to thrive in infancy, Arachnodactyly, Kyphoscoliosis, Short stature, Osteoarthritis, Cerv... OMIM:615582
Typhoid
Tremor, Splenomegaly, Lethargy ORPHA:99745
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Postnatal growth retardati... ORPHA:2834
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication... OMIM:207900
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... ORPHA:2470
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphos... OMIM:225400
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... ORPHA:93111
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Abnormality of the ki... ORPHA:53721
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... OMIM:615300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Cerebral edema OMIM:201450
Nail-Patella Syndrome
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... ORPHA:2614
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Hyperglycinemia OMIM:614299
Pancreatic Agenesis 1
Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici... OMIM:260370
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Lethargy, Pleural effusion, Ascites, Thrombocyto... OMIM:617397
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis... ORPHA:536545
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... ORPHA:3130
Evans Syndrome
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... ORPHA:1959
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Macroglossia, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Dend Syndrome
Clinodactyly of the 4th finger, Elevated hemoglobin A1c, Dehydration ORPHA:79134
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Werner Syndrome
Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Short stature, O... OMIM:277700
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Mucolipidosis Ii Alpha/Beta
Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Thoracolumbar kyphoscolios... OMIM:252500
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal ci... OMIM:620306
Anauxetic Dysplasia 3
Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis, Metaphyseal cupping, Wide a... OMIM:618853
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Small for gest... ORPHA:97360
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter... OMIM:618644
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... OMIM:615710
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... OMIM:136140
Scrub Typhus
Tremor, Splenomegaly, Renal insufficiency, Lethargy ORPHA:83317
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Generalized dystonia, Aggressive behavior, Dystonia, Lethargy, Cerebral edema OMIM:618321
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Cataract, Proteinuria, Diabetes mellitus, Rec... ORPHA:33001
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Hydranencephaly
Stiff neck, Postnatal growth retardation, Opisthotonus, Intrauterine growth retardation, Lethargy... ORPHA:2177
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Leopard Syndrome 1
Hypospadias, Short stature, Limited elbow movement, Unilateral renal agenesis, Short neck, Crypto... OMIM:151100
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat... OMIM:616113
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... ORPHA:261476
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho... OMIM:618156
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Cirrhosis, Familial
Increased level of propylene glycol in blood, Ascites, Lethargy, Increased level of L-fucose in u... OMIM:215600
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Obesity, Cone-shaped epip... OMIM:619269
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, Growth delay OMIM:615803
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Short st... OMIM:617052
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Hallux valgus, Anterior pituitary hypoplasia, Supernumerary nipple, Kyphoscoliosis,... ORPHA:466791
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Short stature, Kyphoscoliosis, Growth delay, Pollakisuria, Urinary retention ORPHA:447760
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Short femur, Recurrent fractures, Polyhydramnios, Unilateral ren... OMIM:618188
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
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
Susac Syndrome
Lethargy, Apathy ORPHA:838
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive, Homocystin... ORPHA:395
Encephalitis Lethargica
Tremor, Lethargy, Stiff neck, Urinary incontinence ORPHA:83600
Stüve-Wiedemann Syndrome
Osteopenia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypothyroidism, ... ORPHA:3206
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Sandifer Syndrome
Anemia, Torticollis, Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis OMIM:164745
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Amoebiasis Due To Free-Living Amoebae
Restlessness, Stiff neck, Intrarenal abscess, Abnormality of the adrenal glands, Lethargy, Increa... ORPHA:68
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the ... ORPHA:456312
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Nail-Patella Syndrome
Keratoconus, Biceps aplasia, Renal insufficiency, Proteinuria, Glomerulonephritis, Cataract, Abse... OMIM:161200
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus OMIM:263210
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Overlapping toe, Short stature, Kyphoscoliosis, Bilateral cryptorchidism, Knee flex... OMIM:617402
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Cataract, Adrenal hyperplasia, Congenital hypo... ORPHA:79500
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Renal Cysts And Diabetes Syndrome
Hypospadias, Elevated circulating creatinine concentration, Biliary tract abnormality, Hypoplasia... OMIM:137920
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology,... ORPHA:288
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Anorexia, Lymphedema, Hyperlipid... ORPHA:324
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Kyphoscoliosis, Polyhydramnios, Atlantoaxial instability, Bladder diverticulum OMIM:614557
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Splenomegaly, Lacticaciduria, Growth delay, Lethargy... OMIM:252010
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl... ORPHA:247598
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Biotinidase Deficiency
Splenomegaly, Organic aciduria, Lethargy, Hyperammonemia OMIM:253260
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Lymphedema, Elevated circulating thyroid-stimulating hor... ORPHA:79318
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
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestational age, Ky... ORPHA:457359
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia OMIM:617914
Incontinentia Pigmenti
Short stature, Eosinophilia, Supernumerary nipple, Kyphoscoliosis, Leukocytosis, Hemivertebrae, B... OMIM:308300
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... ORPHA:2911
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Cataract, Proteinuria, Hypo... OMIM:609049
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Nail-biting, Dystonia, Sandal gap, Short neck, Aggressive behavior, Long fingers, H... OMIM:620330
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Micropenis, Hip dysplasia, Camptodacty... OMIM:617403
Ebola Hemorrhagic Fever
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral... OMIM:166220
Congenital Myopathy 13
Short stature, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Scoliosis OMIM:255995
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidism, Chordee, ... OMIM:618820
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Arachnodactyly, Sagittal ... ORPHA:500150
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Chronic sinusitis, Pancreatitis OMIM:219700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Hypospadias, Elevated circulating luteinizing hormone level, Shor... ORPHA:90796
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine... OMIM:112240
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperammonemia, Hyperornithinemia, Lethargy, Oroticaciduria, Abnormal circulat... ORPHA:415
Trichinellosis
Edema, Facial edema, Periorbital edema, Apathy, Dysphagia, Lethargy ORPHA:863
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Pericarditis, Chondriti... ORPHA:728
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Eczema, Band keratopat... OMIM:186580
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Low back pain, Hypospadias, Ur... ORPHA:573278
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Sacral dimple, Short metacarpal, Brachydactyly, Polyhydramnio... OMIM:617157
Hereditary Chronic Pancreatitis
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Elevated circulating C-reactive prote... ORPHA:676
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Short stature, Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abnormal tibia morphology... ORPHA:363700
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Clinodactyly of the 5th finger, Micropenis, Hypothyr... OMIM:243800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Leukocytosis, Lethargy, Pleural effusion, Failure to thrive OMIM:620233
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Tubulointerstitial nephrit... ORPHA:279914
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Netherton Syndrome
Hypernatremic dehydration, Angioedema, Failure to thrive, Hypereosinophilia OMIM:256500
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... ORPHA:99228
Monosomy X
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... ORPHA:99226
Turner Syndrome
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... ORPHA:881
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
You-Hoover-Fong Syndrome
Clinodactyly, Paroxysmal bursts of laughter, Kyphoscoliosis, Brachydactyly OMIM:616954
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Reduced bone mineral density, Sc... ORPHA:1556
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Tapered finger, Cryptorchi... OMIM:309580
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Kyphoscoliosis, Scoliosis ORPHA:99956
Kufor-Rakeb Syndrome
Oculogyric crisis, Urinary incontinence, Abnormal finger morphology, Blepharospasm, Bradykinesia,... ORPHA:306674
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Biotinidase Deficiency
Lethargy, Organic aciduria, Hyperammonemia ORPHA:79241
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty... ORPHA:79474
Marfan Syndrome
Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Equinus calcaneus, Metatarsus adductus, Prem... OMIM:154700
Primrose Syndrome
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... OMIM:259050
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Eisenmenger Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Clubbing, Pedal edema... ORPHA:97214
Neurofibromatosis, Type I
Short stature, Tibial pseudarthrosis, Genu valgum, Pheochromocytoma, Renal artery stenosis, Scoli... OMIM:162200
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries, Lethargy, Failure to thrive, Pulmonary edema ORPHA:137675
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, In... OMIM:619534
Medulloblastoma
Back pain, Lethargy, Intention tremor ORPHA:616
3Q27.3 Microdeletion Syndrome
Arachnodactyly, Kyphoscoliosis ORPHA:397695
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Hyperuricemia, Hepatocellular ca... OMIM:232220
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Decreased testicular size, Urogenital sinus anomaly ORPHA:2970
Intellectual Developmental Disorder, Autosomal Recessive 78
Clinodactyly of the 5th finger, Kyphoscoliosis, Brachydactyly OMIM:620237
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... ORPHA:449432
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Alagille Syndrome 1
Duplicated collecting system, Posterior embryotoxon, Cataract, Hypertriglyceridemia, Band keratop... OMIM:118450
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... OMIM:208500
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Fryns Syndrome
Aganglionic megacolon, Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Hepatitis, Thymoma, K... OMIM:269200
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Microphthalmia, Syndromic 1
Syndactyly, Hydroureter, Hypospadias, Lumbar hyperlordosis, Kyphoscoliosis, Renal hypoplasia/apla... OMIM:309800
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Aganglionic megacolon, Septate vagina, P... OMIM:270400
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital... ORPHA:564
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... OMIM:618419
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Uncombable hair, Woolly ... ORPHA:84064
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital hip dislocation, Polyhydramnios, Short neck, Flexion cont... OMIM:601803
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis, Exocrine p... OMIM:616263
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas OMIM:147791
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Cryptorchidism, Bic... OMIM:229850
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Meacham Syndrome
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus OMIM:608978
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Aganglionic megacolon ORPHA:210122
Basilar Impression, Primary
Kyphoscoliosis, Short neck OMIM:109500
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Py... ORPHA:2036
Bohring-Opitz Syndrome
Supernumerary nipple, Hyperechogenic pancreas OMIM:605039
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Abnormality of the uterus ORPHA:59315
Neurofibroma
Enlargement of parotid gland, Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... ORPHA:167
Pagod Syndrome
Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital... ORPHA:991
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi... OMIM:201750
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum ORPHA:2745
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipple... ORPHA:79328
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnormality of the uter... ORPHA:99776
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Fanconi Anemia
Hypospadias, Aganglionic megacolon, Abnormal preputium morphology, Cryptorchidism, Azoospermia, A... ORPHA:84
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia OMIM:200995
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Pontocerebellar Hypoplasia Type 7
Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy,... ORPHA:284339
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Bic... OMIM:181450
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... ORPHA:731
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Ambiguous genitalia OMIM:263520
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Ring Chromosome 7 Syndrome
Hypospadias, Short stature, Prominent crus of helix, Small hand, Genu valgum, Hydrocele testis, L... ORPHA:1449
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Annular pancreas, Hypergonadotropic hypogonadism, Micropenis OMIM:227646
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Breast aplasia, Abnormality of the uterus, Hypoplastic nipples ORPHA:3138
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Annular pancreas, Optic atrophy, Hypospadias OMIM:616975
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Optic atrophy ORPHA:97297
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology OMIM:236680
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptorchidism, Optic atrophy, Abnor... ORPHA:1606
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Bicornuate uterus, Hypospadias OMIM:265380
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Hypocalcemic seizures OMIM:612301
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Aganglionic megacolon OMIM:154400
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy OMIM:219000
Meckel Syndrome 14
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... OMIM:249000
Pineoblastoma
Lethargy, Pinealoma ORPHA:251909
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Okamoto Syndrome
Splenomegaly, Bifid uterus ORPHA:2729
Jacobsen Syndrome
Cryptorchidism, Annular pancreas ORPHA:2308
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... OMIM:619488
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... ORPHA:201
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Hypokalemia, Uterine rupture, Uterine prolapse ORPHA:286
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia ORPHA:2363
Norrie Disease
Cryptorchidism, Optic atrophy, Uterine rupture ORPHA:649
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Hypoplasia of the uterus, Clitoral hypoplasia, Anteri... ORPHA:709
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm... OMIM:261540
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Uterus ... ORPHA:93271
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... ORPHA:818
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Decreased serum iron, Precocious puberty, Cryptorchidism, Abnormality of the a... ORPHA:438213
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly OMIM:274000
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... OMIM:268300
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... OMIM:618280
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Pallister-Hall Syndrome
Thyroid hypoplasia, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Adrenocortico... ORPHA:672
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Orthostatic hypotension, Cervical insufficiency ORPHA:287
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Abnormality of the ut... ORPHA:199
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Apl... OMIM:194190
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795

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.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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